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Rare syndromes

Rare syndromes
Aaskog-Scott syndrome
Characteristics: Cervical spine hypermobility/odontoid anomaly, mild/ moderate short stature, cleft lip/palate, skin and skeletal anomalies/laxity, interstitial pulmonary disease.
Key points: Intubation may be difficult.
Reference:

Teebi AS et al. (1993). Aarskog syndrome: report of a family with review and discussion of nosology. American Joournal of Medical Genetics, 46, 501–9.
Achalasia of the cardia
Characteristics: Motor disorder of the distal two-thirds of the oesophagus, failure of relaxation, dysphagia and regurgitation, risk of malignant change.
Key points: Increased risk of gastric reflux.
Achondroplasia (see also p. 167)
Characteristics: Dwarfism, normal size trunk, short limbs, disproportionately large head, flat face, possible small larynx, bulging skull vault and kyphoscoliosis, spinal stenoses in the canal and foramen magnum can occur.
Key points: Possible difficult intubation, care on neck flexion (cord compression), central neural blocks may have unpredictable spread (use smaller amounts), increased risk of obstructive sleep apnoea.
Reference:

Kalla GN et al. (1986). Anaesthetic management of achondroplasia. British Journal of Anaesthesia, 58, 117–19.

Reference:

Wardall GJ, Frame WT (1990). Extradural anaesthesia for caesarian section in achondroplasia. British Journal of Anaesthesia, 64, 367–70.

Acromegaly (see also p. 78)
Characteristics: Enlarged jaw/tongue/larynx, may have nerve entrapment syndromes, respiratory obstruction including sleep apnoea, diabetes mellitus, hypertension, cardiac failure, thyroid, and renal impairment.
Key points: Difficult intubation and maintenance of the airway, narrow cricoid ring may be present, associated organ dysfunction, perioperative glucose intolerance.
Reference:

Seidman PA et al. (2000). Anaesthetic complications of acromegaly. British Journal of Anaesthesia, 84, 179–82.

Albers-Schonberg disease (marble bones)
Alagille’s syndrome (syndromic bile duct paucity)
Characteristics: Paucity of interlobular bile ducts, chronic cholestasis, cardiac/ musculoskeletal/ocular/facial abnormalities.
Key points: Coagulopathy, pathological fractures, retinopathy, neuropathies (vitamin deficiencies). Pretreat with vitamin K. Splenomegaly may cause thrombocytopenia. Full CVS assessment (stenosis/ hypoplasia common). Sagittal spinal cleft, cerebellar ataxia, document pre-existing peripheral neuropathy, gastric reflux risk (abdominal distension).
Reference:

Choudhry DK et al. (1998). The Alagille’s syndrome and its anaesthetic considerations. Paediatric Anaesthesia, 8, 79–82.

Albright’s osteodystrophy (pseudohypoparathyroidism)
Characteristics: Resistance of target tissues to parathyroid hormone. Short

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stature, round face, short neck, diabetes mellitus, hypocalcaemia.

Key points: Neuromuscular irritability and convulsions can occur.
Albright’s syndrome
Characteristics: Defective regulation of cAMP, multiple unilateral bone lesions, skin pigmentation, sexual precocity in females, bony deformity (including skull) and fractures, spinal cord compression. Acromegaly, thyrotoxicosis, Cushing’s syndrome may coexist. See Acromegaly.
Key points: Identify endocrine abnormalities, may need larger than expected ETT. Cardiac arrhythmias may occur, bony deformity may complicate regional blocks.
Reference:

Langer RA et al. (1995). Anesthetic considerations in McCune-Albright syndrome: case report with literature review. Anesthesia and Analgesia, 80, 1236–9.

Alport syndrome
Characteristics: Hereditary nephropathy, predominantly affecting males, characterized by nephritis progressing to renal failure. Other features include sensorineural deafness, myopia, and thrombocytopenia with giant forms of platelets.
Key points: Check renal function and clotting, hypertension.
Reference:

Kashtan CE et al. (1999). Alport syndrome: an inherited disorder of renal, ocular, and cochlear basement membranes. Medicine, 78, 338–60.

Alstrom syndrome
Characteristics: Obesity from infancy, nystagmus, sensitivity to light, progressive visual impairment with blindness by age 7, sensorineural hearing loss, diabetes mellitus and renal failure in early adult life, cardiac disease.
Key points: Problems associated with obesity/organ dysfunction.
Reference:

Russell-Eggitt LM et al. (1998). Alstrom syndrome: report of 22 cases and literature review. Ophthalmology, 105, 1274–80.

Alveolar hypoventilation
Characteristics: Central hypoventilation due to midbrain lesion or severance of the spinal tracts from the midbrain (Ondine’s curse). Periods of prolonged apnoea, hypoxia, hypercarbia (see p. 000 on sleep apnoea, etc.).
Key points: Abnormal respiratory drive, care with O2 supplements if relying on hypoxic drive, re-establishing spontaneous ventilation may be difficult. Consider regional techniques, postoperative respiratory failure, cor pulmonale, polycythaemia, autonomic dysfunction.
Reference:

Wiesel S, Fox GS (1990). Anaesthesia for the patient with central alveolar hypoventilation syndrome. Canadian Journal of Anaesthesia, 37, 122–6.

Reference:

Strauser LM et al. (1999). Anesthetic care for the child with congenital central alveolar hypoventilation syndrome (Ondine’s curse). Journal of Clinical Anesthesia, 11, 431–7.

Amyloidosis
Characteristics: Abnormal deposition of hyaline material in tissues. Macroglossia, unexpected cardiac or renal failure can occur, associated with other pathologies.
Key points: Assess to detect systems affected. Risk of postoperative organ failure.
Reference:

Welch DB (1982). Anaesthesia and amyloidosis. Anaesthesia, 37, 63–6.

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Amyotonia congenita
Amyotrophic lateral sclerosis (see also p. 198)
Characteristics: Progressive degeneration of lower motor neurons, motor nuclei of the brainstem, descending pathway of the upper motor neurons. Atrophy and weakness involving most of the skeletal muscles including tongue, pharynx, larynx, and chest wall muscles. Fasciculation occurs. Sensation normal.
Key points: Impaired ventilation, altered response to muscle relaxants, aspiration risk (laryngeal incompetence), sensitive to respiratory depressants.
Reference:

Rowland LP, Schneider NA (2001). Amyotrophic lateral sclerosis. New England Journal of Medicine, 344, 1688–700.

Analbuminaemia
Characteristics: Deficiency of albumin.
Key points: Sensitivity to all protein-bound drugs. Titrate drugs carefully.
Reference:

Dammacco F et al. (1980). Analbuminemia: report of a case and review of the literature. Vox Sang, 39, 153–61.

Andersen’s disease
Andersen’s syndrome
Characteristics: Triad of potassium-sensitive periodic paralysis, ventricular arrhythmias, and dysmorphic features.
Key points: Long QT, spontaneous attacks of paralysis with acute changes in K+, baseline level may be hypokalaemia/normokalaemia/ hyperkalaemia.
Reference:

Sansone V et al. (1997). Andersen’s syndrome: a distinct periodic paralysis. Annals of Neurology, 42, 305–12.

Anhidrotic/hypohydrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome)
Characteristics: Characterized by hypodontia, hypotricosis, and hypohidrosis.
Key points: Difficult intubation, heat intolerance, recurrent cheat infections (poor mucus formation).
Reference:

Sugi Y et al. (1999). Anesthetic management of a patient with hypohidrotic ectodermal dysplasia Masui, 48, 888–90.

Ankylosing spondylitis (see also p. 163)
Characteristics: Asymmetric oligoarthropathy, total vertebral involvement, cardiomegaly, aortic regurgitation, cardiac conduction abnormalities, pulmonary fibrosis. Bamboo spine.
Key points: Difficult airway and central neural blockade.
Reference:

Schelew BL, Vaghadia H (1996). Ankylosing spondylitis and neuraxial anaesthesia—a 10-year review. Canadian Journal of Anaesthesia, 43, 65–8.

Reference:

Wittmann FW, Ring PA (1986). Anaesthesia for hip replacement in ankylosing spondylitis. Journal of the Royal Society of Medicine, 79, 457–9.

Antley-Bixler syndrome
Characteristics: Autosomal recessive disorder, multiple bone and cartilaginous abnormalities. Significant craniosynostosis, midface hypoplasia,

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choanal stenosis or atresia, femoral bowing, radiohumeral synostosis, multiple joint contractures. CVS, renal, and GI malformations have also been described.

Key points: Potential difficult airway, extremity deformities may complicate vascular access and positioning.
Reference:

LeBard SE, Thiemann LJ (1998). Antley-Bixer syndrome: a case report and discussion. Paediatric Anaesthesia, 8, 89–91.

Apert’s syndrome
Characteristics: Craniosynostosis, high forehead, maxillary hypoplasia, relative mandibular prognathism, cervical synostosis, visceral malformations, congential heart anomalies.
Key points: Airway difficulties, assess for other organ involvement and raised ICP.
Reference:

Ciceri G et al. (1997). Anesthesia in Apert syndrome. Minerva Anestesiol., 63, 167–9.
Reference:

Nargozian C (1991). Apert syndrome. Anesthetic management. Clinics in Plastic Surgery, 18, 227–30.

Arnold-Chiari malformation
Characteristics: Group of congenital hindbrain anomalies causing downward displacement of pons and medulla with variable neurological sequelae.
Key points: Preoperative assessment of CNS function and response to neck movement and ICP. Careful neuroanaesthetic (usual potential problems).
Reference:

Semple DA, McClure JH (1996). Arnold-Chiari malformation in pregnancy. Anaesthesia, 51, 580–2.

Arthrogryposis (congenital contractures)
Characteristics: Skin and subcutaneous tissue abnormalities, contracture deformities, micrognathia, cervical spine and jaw stiffness. 10% have associated congenital heart disease.
Key points: Difficult airway and venous access, sensitive to thiopental, hypermetabolic response is probably not MH.
Reference:

Hopkins PM et al. (1991). Hypermetabolism in arthrogryposis multiplex congenita. Anaesthesia, 46, 374–5.

Reference:

Nguyen NH et al. (2000). Anaesthetic management for patients with arthrgryposis multiplex congenita and severe micrognathia. Journal of Clinical Anesthesia, 12, 227–30.

Asplenia syndrome
Characteristics: Complex congenital heart defects, asplenia, and visceral anomalies.
Key points: Cardiac failure, frequently hiatus hernia and reflux, recurrent pneumonias.
Reference:

Uchida K et al. (1992). Anesthetic management of an infant with a single ventricle (asplenia syndrome) for non-cardiac surgery. Masui, 41, 1793–7.

Ataxia-telangiectasia
Characteristics: Progressive cerebellar ataxia, conjunctival telangiectases, progressive neurological degeneration. Recurrent chest and sinus infections, malignancies (leukaemias), sensitive to X-rays/radiotherapy (cellular damage), premature aging.
Key points: Recurrent chest infections, bronchiectasis.

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Reference:

Gatti RA et al. (1991). Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine, 70, 99–117.

Axenfeld-Reiger syndrome
Characteristics: Ocular and dental defects, maxillary hypoplasia, heart defects, short stature, mental deficiency
Key points: Potential airway problems.
Reference:

Asai T et al. (1998). Difficult airway management in a baby with Axenfeld-Reiger syndrome [letter]. Paediatric Anaesthesia, 8, 444.

Bartter syndrome
Characteristics: Growth retardation, hypertrophy and hyperplasia of the juxtaglomerular apparatus, ADH antagonism by protaglandins, hyperaldosteronism, hypokalaemic alkalosis, normal BP, diminished response to vasopressors, platelet abnormalities.
Key points: Maintain CVS stability, control serum K+, meticulous fluid balance, caution with renally excreted drugs. Central neural anaesthesia may be hazardous (stature, clotting, pressor response).
Reference:

Abston PA, Priano LL (1981). Bartter’s syndrome: anesthetic implications based on pathophysiology and treatment. Anesthesia and Analgesia, 60, 764–6.

Behçet’s syndrome
Characteristics: Chronic multisystem vasculitis of unknown aetiology. Diagnosed by triad of recurring iritis, mouth ulceration, genital ulceration. Vasculitis may involve other organ systems.
Key points: Possible altered fibrinolysis, previous oral ulceration/ scarring may complicate airway management, full assessment of other organ function, minimize needle punctures (diffuse inflammatory skin reaction), autonomic hyper-reflexia may occur with spinal cord involvement.
Reference:

Lee LA (2001). Behcet disease. Seminars in Cutaneous Medicine and Surgery, 20, 53–7.

Reference:

Turner ME (1972). Anaesthetic difficulties associated with Bechet’s syndrome. British Journal of Anaesthesia, 44, 100.

Beckwith-Wiedemann syndrome (infantile gigantism)
Characteristics: Macroglossia, microcephaly, omphalocele, perinatal/postnatal gigantism, neonatal hypoglycaemia (hyperinsulinism), possible congenital heart disease (ASD/VSD/PDA/ hypoplastic LV).
Key points: Abnormal airway anatomy, congenital heart disease, and severe hypoglycaemia. Extubate awake.
Reference:

Suan C et al. (1996). Anaesthesia and the Beckwith-Wiedemann syndrome. Paediatric Anaesthia, 6, 231–3.
Reference:

Gurkowski MA, Rasch DK (1989). Anesthetic considerations for Beckwith-Wiedemann syndrome. Anesthesiology, 70, 711–12.

Bernard-Soulier syndrome (giant platelet syndrome)
Characteristics: Congenital lack of membrane glycoprotein GP1b, reduced numbers of huge platelets, prolonged bleeding time.
Key points: Severe bleeding tendency, possibly improves with age, platelet infusions may be needed.

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Blackfan-Diamond syndrome (congenital red-cell aplasia)
Characteristics: Congenital hypolastic anaemia, growth retardation, congestive cardiac failure.
Key points: Hepatosplenomegaly (may reduce FRC), hypersplenism, thrombocytopenia.
Reference:

Willig TN et al. (2000). Diamond-Blackfan anemia. Current Opinion in Haematology, 7, 85–94.
Bland-White-Garland syndrome
Characteristics: Anomalous origin of left coronary artery from the pulmonary trunk, chronic myocardial ischaemia, subendocardial fibrosis, LV dilatation, valvular insufficiency (papillary muscle damage), congestive cardiac failure.
Key points: Perioperative myocardial failure, often difficult to wean from ventilation.
Reference:

Kleinschmidt S et al. (1996). The Bland-White-Garland syndrome. Clinical picture and anaesthesiological management. Paediatric Anaesthesia, 6, 65–8.

Bloom’s syndrome
Characteristics: Rare autosomal recessive disorder due to chromosome breakage and recombination, short stature, photosensitive, facial telangiectasic erythema, predisposition to malignant diseases.
Key points: Potential difficulties with mask fit and laryngoscopy, limit X-rays to minimum (may damage cells).
Reference:

Aono J et al. (1992). Anesthesia for a patient with Bloom’s syndrome. Masui, 41, 255–7.

Buerger’s disease (thromboangiitis obliterans)
Characteristics: Peripheral vascular disease with ulceration, Raynaud’s phenomenon, hyperhidrosis, bronchitis and emphysema.
Key points: Non-invasive BP may over-read.
Bullous cystic lung disease
Characteristics: Non-communicating lung cysts may be more compliant than normal lung.
Key points: Risk of rupture with IPPV causing pneumothorax. Avoid N2O. High-frequency jet ventilation has been used successfully.
Reference:

Normandale JP, Feneck RO (1985). Bullous cystic lung disease. Anaesthesia, 40, 1182–5.

Burkitt’s lymphoma
Characteristics: Undifferentiated lymphoblastic lymphoma most commonly affecting the jaw (also abdominal organs, breasts, testes).
Key points: May be difficult intubation.
Reference:

Palmer CD et al. (1998). Anaesthetic management of a child with Burkitt’s lymphoma of the larynx. Paediatric Anaesthesia, 8, 506–9.

Cantrell’s pentalogy
Characteristics: Defect of the supraumbilical abdominal wall, agenesis of the lower part of the sternum and anterior portion of the diaphragm, absence of diaphragmatic part pericardium, cardiac malformation (VSD/ASD).

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Key points: Check for right to left shunting, avoid pressure to lower thorax/abdomen, lungs may be hypoplastic.
Reference:

Laloyaux P et al. (1998). Anaesthetic management of a prematurely born infant with Cantrell’s pentalogy. Paediatric Anaesthesia, 8, 163–6.

Carpenter’s syndrome
Characteristics: Cranial synostosis with small mandible, congenital heart disease (PDA/VSD), obesity, umbilical hernia and mental retardation, cerebrospinal malformations (narrowed foramen magnum, hypoplastic posterior fossa, kinked spinal cord).
Key points: Difficult intubation and system anomalies.
Reference:

Islek I et al. (1998). Carpenter syndrome: report of two siblings. Clinical Dysmorphology, 7, 185–9.

Central core myopathy
Cerebrocostomandibular syndrome
Characteristics: Micrognathia, cleft palate, rib defects/microthorax, mental deficiency, early death from respiratory complications.
Key points: Difficult intubation, tracheal anomalies.
Reference:

Smith KG, Sekar KC (1985). Cerebrocostomandibular syndrome. Case report and literature review. Clinical Pediatrics, 24, 223–5.

Chagas’ disease (American trypanosomiasis)
Characteristics: Many assymptomatic cases, malaise, anorexia, fever, unilateral oedema, hepatomegaly, cardiac failure, chronic myocarditis, megacolon/megaoesophagus.
Key points: Gastric reflux risk and associated organ dysfunction.
Reference:

Saraiva RA et al. (1980). Cardiovascular response to anaesthesia in Chagas’ disease. Tropical Doctor, 10, 62–5.

Charcot-Marie-Tooth disease (peroneal muscular atrophy)
Characteristics: Chronic peripheral neuromuscular denervation with subsequent atrophy, spinal and lower limb deformities, hyperkalaemia, may affect respiratory muscles (restrictive pattern).
Key points: Evidence suggests MH risk is low, suxamethonium should probably be avoided, pulmonary complications.
Reference:

Antognini JF (1992). Anaesthesia for Charcot-Marie-Tooth disease: a review of 86 cases. Canadian Journal of Anaesthesia, 39, 398–400.

CHARGE association
Characteristics: Coloboma, Heart anomaly, choanal Atresia, Retardation, Genital, and Ear anomalies.
Key points: Difficult intubation (micrognathia), look for congenital heart anomaly.
Reference:

Davenport SLH et al. (1986). The spectrum of clinical features in CHARGE syndrome. Clinical Genetics, 29, 298–310.

Chediak-Higashi syndrome (immunodeficiency, with some albinism)
Characteristics: Autosomal albinism, photophobia, nystagmus, weakness, tremor, thrombocytopenia.

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Key points: Susceptible to infection, bleeding potential.
Reference:

Ulsoy H et al. (1995). Anesthesia in Che’diak-Higashi syndrome—case report. Middle East Journal of Anesthesiology, 13, 101–5.

Cherubism
Characteristics: Tumourous mandibular and maxillary lesions, intraoral masses.
Key points: Difficult intubation, profuse bleeding, can get acute respiratory distress, tracheostomy may be needed.
Reference:

Maydew RP, Berry FA (1985). Cherubism with difficult laryngoscopy and tracheal intubation. Anesthesiology, 62, 810–12.

Chronic granulomatous disease
Characteristics: Rare genetically transmitted disorder, recurrent lifethreatening infections with catalase-positive micro-organisms, excessive inflammatory reactions lead to granuloma formation, multiple organ system involvement including pulmonary granulomata.
Key points: Regurgitation and aspiration risk (GI granulomata), long-term prophylactic antibiotics.
Reference:

Wall RT et al. (1990). Anesthetic considerations in patients with chronic granulomatous disease. Journal of Clinical Anesthesia, 2, 306–11.

Cockayne’s syndrome
Characteristics: Rare autosomal recessive condition, failure of DNA repair, dysmorphic dwarf, mentally retarded infant/child. (See Dwarf.)
Key points: Problems with airway management, increased risk of gastric aspiration, hypertension, hepatic deficiencies, osteoporosis, deafness, blindness, and other effects of premature ageing (see Progeria) may be encountered.
Reference:

Wooldridge WJ et al. (1996). Anaesthesia for Cockayne syndrome. Three case reports. Anaesthesia, 51, 478–81.

Congenital adrenal hyperplasia (adrenogenital syndrome)
Characteristics: Congenital disorders leading to defects in cortisol biosynthesis, increased ACTH and disordered androgens, mineralocorticoids.
Key points: May mimic pyloric stenosis in neonate, electrolyte abnormalities, adequate perioperative fluid and steroid therapy.
Congenital analgesia
Characteristics: Rare hereditary disorder leading to self-mutilation, defective thermoregulation.
Key points: Careful positioning, vasomotor control and possible sensitivity to anaesthetic drugs.
Reference:

Layman PR (1986). Anaesthesia for congenital analgesia. A case report. Anaesthesia, 41, 395–7.

Congenital myopathy (central core disease) (see also p. 203)
Characteristics: Non-progressive extremity weakness (lower > upper), difficulty rising from sitting, increased lumbar lordosis, most test positive for MH in vitro, ptosis.
Key points: Avoid MH trigger factors. Ventilatory weakness, sensitive to muscle relaxants.
Reference:

Shuaib A et al. (1987). Central core disease. Medicine, 66, 389.

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Conradi-Hunermann syndrome (chondrodysplasia punctata)
Characteristics: Epiphyseal calcifications, short stature, hypertelorism, saddle nose, short neck, tracheal stenosis and scoliosis, renal and congenital heart disease.
Key points: Ventilatory failure due to airway and thoracic deformities, renal impairment, skin protection (use patient’s creams/ padding), attention to thermoregulation (lose heat quicker).
Reference:

Yorozu T et al. (1989). Anaesthetic management of a patient with Conradi’s syndrome (chondrodysplasia punctata). A case report. Masui, 38, 1092–5.

Core syndrome
Cornelia de Lange syndrome
Characteristics: Duplication/partial trisomy chromosome 3, psychomotor retardation, skeletal craniofacial deformities, VSD, GI anomalies.
Key points: Cardiorespiratory function, possible difficult airway, gastric reflux risk, susceptible to infections, possible increased MH risk.
Reference:

Corsini LM et al. (1998). Anaesthetic implications of Cornelia de Lange syndrome. Paediatric Anaesthesia, 8, 159–61.

Costello syndrome
Characteristics: Mental and growth retardation, cardiac arrhythmias, cardiomyopathy, talipes, scoliosis. (See Cutis laxa.)
Key points: Gastric reflux, arrhythmias.
Reference:

Dearlove O, Harper N (1997). Costello syndrome [letter]. Paediatric Anaesthesia, 7, 476–7.

CREST syndrome
Characteristics: Form of scleroderma, widespread necrotizing angiitis with granulomas, Calcinosis, Raynaud’s phenomenon, oesophageal dysfunction, Sclerodactyly, Telangiectasis.
Key points: Multiple organ involvement, airway difficulties, gastric reflux risk, arrhythmias, nerve compression syndromes, contractures, pulmonary fibrosis.
Cretinism
Characteristics: Congenital hypothyroidism, neurological and intellectual damage, muscle weakness, cardiomyopathy.
Key points: Intubation problems (macroglossia), sensitive to anaesthetic drugs, respiratory complications, steroid cover, glucose and electrolyte abnormalities.
Creutzfeldt-Jacob disease (CJD) (see also p. 518)
Characteristics: Progressively fatal encephalopathy of infective origin, seizures, variable neurological signs, multiple brain cavities (status spongiosis). (See also New variant Creutzfeldt-Jacob disease.)
Key points: Muscular incoordination, malnutrition
Reference:

MacMurdo SD et al. (1984). Precautions in the anesthetic management of a patient with Creutzfield-Jacob disease. Anesthesiology, 60, 590–2.

Cri-du-chat syndrome
Characteristics: Inherited disease resulting in mental retardation, abnormal cry (due to abnormal larynx), laryngomalacia, microcephaly, micrognathia, macroglossia, spasticity, congenital heart disease (30%).

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Key points: Potential airway problems, long curved epiglottis, narrow diamond shaped epiglottis, hypotonia (possible airway obstruction by soft tissues), temperature instability.
Reference:

Brislin RP et al. (1995). Anaesthetic considerations for the patient with cri du chat syndrome. Paediatric Anaesthesia, 5, 139–41.

Crouzon’s disease
Characteristics: Craniosynostosis, hydrocephalus, raised ICP, maxillary hypoplasia, mandibular prognathism, prominent nose, coarctation can occur.
Key points: Airway difficulties, postoperative respiratory obstruction. Assess for other organ involvement and ICP. Correction procedures can bleed profusely.
Reference:

Payne JF, Cranston AJ (1995). Postoperative airway problems in a child with Crouzon’s syndrome. Paediatric Anaesthesia, 5, 331–3.

Cutis laxa (elastic degeneration)
Characteristics: Defective elastin crosslinking probably related to copper deficiency, extreme laxity of facial and trunk skin, no retraction after stretching, fragile skin and blood vessels.
Key points: Pendulous pharyngeal/laryngeal mucosa may obstruct airway, respiratory infections and emphysema common, careful positioning.
Cystic hygroma
Characteristics: Benign multilocular lymphatic tumour of neck/oral cavity/ tongue causing local pressure symptoms, including airway compromise.
Key points: Potential airway problems. Partially obstructed airway in awake patient may totally obstruct on induction, oral intubation often impossible (enlarged tongue), tracheostomy may be complicated with submandibular involvement.
Reference:

Sharma S et al. (1994). Cystic hygroma: anaesthetic considerations and review. Singapore Medical Journal, 35, 529–31.

Dandy-Walker syndrome
Characteristics: Congenital obstruction to foraminae of Luschka/ Magendi. Progressive head enlargement, hydocephalus, craniofacial abnormalities, cardiac, renal, skeletal malformations, altered medullary respiratory control.
Key points: Usually require CSF shunt, control ICP, risk of respiratory failure, postoperatively consider ICU (recurrent apnoea).
Reference:

Ewart MC, Oh TE (1990). The Dandy-Walker syndrome. Relevance to anaesthesia and intensive care. Anaesthesia, 45, 646–8.

Delleman syndrome (oculocerebrocutaneous syndrome)
Characteristics: Somatic mutation of autosomal dominant gene only compatible with life in mosaic form. Multiple brain, skin, eye, bony abnormalities.
Key points: Determine severity of abnormalities, seizures can occur under general anaesthetic (consider if there are unexplained autonomic changes), aspiration pneumonitis, hydrocephalus, vertebral anomalies, possible difficult intubation, postoperative apnoea monitoring.
Reference:

Sadhasivam S, Subramaniam R (1998). Delleman syndrome: anesthetic implications. Anesthesia and Analgesia, 87, 553–5.

Dermatomyositis (polymyositis)
Characteristics: Inflammatory myopathy, skeletal muscle weakness may

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result in dysphagia/aspiration/recurrent pneumonia, myocarditis and occult cancer occur.

Key points: Restricted mouth opening, enhanced/delayed effect of muscle relaxant, pulmonary complications (aspiration pneumonia and lung fibrosis), cardiomyopathy (arrhythmias and cardiac failure), anaemia, steroid supplementation.
Reference:

Ganta R et al. (1988). Anaesthesia and acute dermatomyositis/ polymyositis. British Journal of Anaesthesia, 60, 854–8.

DiGeorge syndrome (velocardiofacial syndrome ‘CATCH 22’ syndrome)
Characteristics: Cardiac abnormalities, Abnormal facies, Thymic hypoplasia, Cleft palate, Hypocalcaemia, 22affected chromosome.
Key points: Immune deficiency, recurrent chest infections, upper airway problems/stridor, gastro-oesophageal reflux, hypo-tonia, obstructive apnoea, hyperventilation induced seizures (low calcium).
Reference:

Flashburg MH et al. (1983). Anesthesia for surgery in an infant with DiGeorge syndrome. Anesthesiology, 58, 479–81.

Reference:

Pike AC, Super M (1997). Velocardiofacial syndrome. Postgraduate Medical Journal, 73, 771–5.

Dubowitz’ syndrome
Characteristics: Retarded growth, microcephaly, craniofacial deformations and dysmorphia of the extremities. Psychomotor development varies between normal and retarded, thin hair, cryptorchism, hyperactivity.
Key points: Possible difficult intubation, thorough assessment since the condition may involve the cutaneous, ocular, dental, digestive, musculoskeletal, urogenital, cardiovascular, neurological, haematological, and immune systems.
Reference:

Gomirato G (1992). Dubowitz’ syndrome with special characteristics. Panminerva Medica, 34, 141–4.

Reference:

Tsukahara M, Opitz JM (1996). Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. American Journal of Medical Genetics, 63, 277–89.

Dwarfism
Characteristics: Manifestation of over 55 syndromes. Disproportionate short stature (cf. ‘midgets’-proportionate). Atlantoaxial instability, spinal stenosis and/or compression, difficult airway management, thoracic dystrophy (ventilatory problems and frequent pneumonias), scoliosis and kyphoscoliosis, congenital cardiac disease.
Key points: Evaluate and protect the cervical spine, document any pre-existing neurological deficit if central blockade considered, difficult airway, ventilatory difficulty and weaning.
Reference:

Walts LF et al. (1975). Anaesthesia for dwarfs and other patients of pathological small stature. Canadian Anaesthesia Society Journal, 22, 703.
Dygue-Melchior-Clausen’s syndrome
Characteristics: Autosomal recessive, mental retardation, small stature (short vertebral column) with thoracic kyphosis, protruding sternum, reduced articular mobility, microcephaly.
Key points: Difficult intubation.

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Reference:

Schlaepfer R (1981). Dyggve-Melchior-Clausen syndrome. Case report and review of the literature Helvetica Paediatrica Acta, 36, 543–59.
Dysautonomia (Riley-Day syndrome)
Characteristics: Inherited disease, abnormally active parasympathetic nervous system with sporadic sympathetic storms, highly emotional, bouts of sweating, unexplained fluctuations in BP.
Key points: Autonomic instability, salivation, poor thermoregulation, regurgitation. Sensitivity to respiratory depressants with reduced hypercapnic drive (need IPPV). Reduced pain sensitivity. Volatile agents can cause hypotension and bradycardia.
Reference:

Axelrod FB et al. (1988). Anesthesia in familial dysautonomia. Anaesthesiology, 68, 631–5.

Reference:

Challands JF, Facer EK (1998). Epidural anaesthesia and familial dysautonomia (the Riley-Day syndrome). Three case reports. Paediatric Anaesthesia, 8, 83–8.

Eaton-Lambert syndrome
Ebstein’s abnormality (tricuspid valve disease)
Characteristics: Congenital heart defect, downward displacement of deformed tricuspid valve, atrialization of RV, may be no obvious clinical signs.
Key points: Risk of SVT during induction.
Reference:

Takahashi K et al. (1992). Anesthesia for cesarean section in a patient with Ebstein’s anomaly. Masui, 41, 1163–7.

Edward’s syndrome (trisomy 18)
Characteristics: Craniofacial anomalies, congenital heart disease, mental/ physical delays, only less severe cases survive.
Reference:

Bailey C, Chung R (1992). Use of the laryngeal mask airway in a patient with Edward’s syndrome [letter]. Anaesthesia, 47, 713.

Reference:

Miller C, Mayhew JF (1998). Edward’s syndrome (trisomy 18) [letter]. Paediatric Anaesthesia, 8, 441–2.

Ehlers-Danlos syndrome
Characteristics: Group of conditions arising from defective cross-linking of collagen. Variable features depending upon the tissue distribution of different collagens, extensible fragile skin, joint laxity and hypermobility, recurrent dislocations, prolonged or spontaneous bleeding, rupture of cerebral and other vessels, bowel perforation, ocular abnormalities, kyphoscoliosis, spontaneous pneumothorax.
Key points: Careful positioning and padding, beware of undiagnosed pneumothorax, intubation may cause severe tracheal bruising.
Reference:

Dolan P et al. (1980). Anesthetic considerations for Ehlers-Danlos syndrome. Anesthesiology, 52, 266–9.

Reference:

Vicente Guillen R et al. (1986). Anesthesia in Ehlers-Danlos syndrome. Rev. Esp. Anestesiol. Reanim., 33, 446–7.
Eisenmenger’s syndrome (pulmonary hypertension, VSD, right ventricular failure)
Characteristics: Cyanotic congenital heart disease, usually uncorrectable, pulmonary hypertension/VSD/RV failure, medical therapy may prolong life

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(thirties), high mortalilty in pregnant patients due to reductions in SVR and increased shunt (termination has been advocated).

Key points: Prevent increases in R to L shunt (caused by e.g. increased PVR/reduced SVR such as from volatiles, histamine release, etc.), avoid dehydration, consider pancuronium (sympathetic stimulation beneficial), air from infusions/syringes can cross VSD, risk of asystole under GA, slow equilibration of inhaled gases.
Reference:

Foster JM, Jones RM (1984). The anaesthetic management of the Eisenmenger syndrome. Annals of the Royal College of Surgeons of England, 66, 353–5.

Ellis-Van Creveld disease (chondroectodermal dysplasia)
Characteristics: Dwarfism, pulmonary/cardiac (ASD/VSD/single atrium) abnormalities, polydactyly. (See Dwarfism.)
Key points: Underlying anomalies, respiratory failure.
Reference:

Wu CL, Litman RS (1994). Anaesthetic management for a child with the Ellis-van Creveld syndrome. A case report. Paediatric Anaesthesia, 4, 335–7.

Epidermolysis bullosa
Characteristics: Rare autosomal recessive disease. Extreme bullae formation of skin and mucosa, typical dystrophic nails and flexion contractures of the joints lead to deformities. Carious teeth and small mouth caused by scarred contractures of the lips are characteristic.
Key points: Avoid trauma to skin and mucous membranes (e.g. care with positioning, electrodes, tape, padding below BP cuff, longest acceptable inflation interval), keep upper airway manipulations to a minimum, consider postoperative ICU.
Reference:

Hagen R, Langenberg C (1988). Anaesthetic management in patients with epidermolysis bullosa dystrophica. Anaesthesia, 43, 482–5.

Reference:

Yasui Y et al. (1995). Anesthesia in a patient with epidermolysis bullosa. Masui, 44, 260–2.

Erythema multiforme
Characteristics: Acute self-limiting condition of skin and mucous membranes, concentric rings of erythematous papules/bullae (epidermal necrosis); severe cases (Stevens-Johnson syndrome) can be fatal.
Key points: Beware postintubation laryngeal oedema, consider whether the cause is drug related.
Fabry’s syndrome
Characteristics: Alpha-galactosidase deficiency leading to deposition of glycosphingolipid in many organs, ischaemic heart disease, neurological disorder, renal failure, hypohidrosis.
Key points: Assess CVS, CNS, and renal condition. Document existing neurological deficit prior to regional techniques. Monitor and control core temperature.
Reference:

Watanabe H (1995). The anesthetic management of a patient with Fabry’s disease. Masui, 44, 1258–60.

Factor V Leiden mutation
Characteristics: Resistance to anticoagulant effect of protein C.
Key points: High risk of PE, careful control of anticoagulation.

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Familial dysautonomia
Familial periodic paralysis
Characteristics: Muscular weakness related to K+ changes (absolute K+ value is not important).
Reference:

Ahlawat SK, Sachdev A (1999). Hypokalaemic paralysis. Postgraduate Medical Journal, 75, 193–7.

Fanconi’s anaemia
Characteristics: Congenital aplastic anaemia, defective DNA regeneration.
Key points: Sensitive to X-rays, limit exposure.
Fanconi syndrome (renal tubular acidosis)
Characteristics: Generalized defect in proximal tubular function resulting in phosphate wasting, glycosuria, aminoaciduria, bicarbonate wasting, excess potassium loss, polydipsia, polyuria, muscle weakness and acidosis, dwarfing, and osteomalacia. Usually secondary to other disease.
Key points: Correct and maintain careful fluid/electrolyte balance.
Reference:

Joel M, Rosales JK (1981). Fanconi syndrome and anesthesia. Anesthesiology, 55, 455–6.

Farber’s disease (lipogranulomatosis)
Characteristics: Ceramidase deficiency, hoarse cry, painful swollen joints, periarticular nodules, pulmonary infiltrates, mental handicap, thickened heart valves, cardiomyopathy, renal/hepatic failure, usually die by 2 years (airway problems).
Key points: Difficult intubation, laryngeal granulomata may complicate intubation, postextubation laryngeal oedema/bleeding, risk of postoperative renal/hepatic failure. Anatomical neck deformity may complicate urgent tracheostomy.
Reference:

Asada A et al. (1994). The anesthetic implications of a patient with Farber’s lipogranulomatosis. Anesthesiology, 80, 206–9.

Felty’s syndrome
Characteristics: Hypersplenism in rheumatoid arthritis.
Key points: Pancytopenia, haemolysis due to red cell sequestration, increased plasma volume.
Fibrodysplasia ossificans (myositis ossificans)
Characteristics: Progressive bony infiltration of tendons/muscles/ fascia/ aponeuroses leading to joint ankylosis throughout the body. Permanent ankylosis of the jaw may be precipitated by minimal soft tissue trauma.
Key points: Difficulties with intubation, possibility of atlantoaxial subluxation, restrictive pulmonary disease, cardiac conduction abnormalities.
Reference:

Newton MC et al. (1990). Fibrodysplasia ossificans progressiva. British Journal of Anaesthesia, 64, 246–50.

Reference:

Nussbaum BL et al. (1996). Fibrodysplasia ossificans progressiva: report of a case with guidelines for pediatric dental and anesthetic management. ASDC J. Dent. Child., 63, 448–50.

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Fibromatosis (including juvenile and hyaline forms)
Characteristics: Large cutaneous nodules (especially head/neck/lips), joint contractures, gingival hypertrophy, osteolytic lesions.
Key points: Potential airway problems.
Reference:

Norman B et al. (1996). Anaesthesia and juvenile hyaline fibromatosis. British Journal of Anaesthesia, 76, 163–6.

Fraser syndrome (cryptophthalmos-‘hidden eye’)
Characteristics: Cryptophthalmos, laryngeal atresia/hypoplasia, fixed posterior arytenoids, genitourinary abnormalities, cleft lip and palate, possible association with congenital heart disease/neurological abnormalities.
Key points: Airway problems, underlying cardiac/renal disease.
Reference:

Jagtap SR et al. (1995). Anaesthetic considerations in a patient with Fraser syndrome Anaesthesia, 50, 39–41.
Freeman-Sheldon (craniocarpotaral dysplasia or ‘whistling face’) syndrome
Characteristics: Progressive congenital myopathy, multiple deformities of face, hands, and feet, microstomia with pursed lips.
Key points: Difficult intubation (micrognathia/neck rigidity/anterior larynx), postoperative respiratory complications, difficult venous access, possible MH risk.
Reference:

Munro HM et al. (1997). Freeman-Sheldon (whistling face) syndrome. Anaesthetic and airway management. Paediatric Anaesthesia, 7, 345–8.

Reference:

Vas L, Naregal P (1998). Anaesthetic management of a patient with Freeman Sheldon syndrome. Paediatric Anaesthesia, 8, 175–7.

Friedreich’s ataxia
Characteristics: Autosomal recessive progressive ataxia with additional myopathy. Myocardial degeneration with failure and arrhythmias, respiratory failure, diabetes, peripheral neuropathy.
Key points: Previously quoted to be sensitive to suxamethonium although recent evidence does not support this.
Reference:

Bell CF et al. (1986). Anaesthesia for Friedreich’s ataxia. Case report and review of the literature. Anaesthesia, 41, 296–301.

Gaisbock’s syndrome
Characteristics: Relative polycythaemia due to decreased plasma volume, middle-aged obese smoking hypertensive men.
Key points: Risk of arterial thrombotic episodes, myocardial/cerebral ischaemia, consider venesection to normal haematocrit.
Gardner’s sydrome (multiple polyposis)
Characteristics: Multiple colonic polyps (risk of malignant change), soft tissue tumours, osseous neoplasms.
Key points: Laryngeal polyps may be present.
Gaucher’s disease
Characteristics: Autosomal recessive disorder of lipid catabolism, glycosphingolipids accumulate, leading to end-organ dysfunction, three variants

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differ in onset and CNS involvement.

Key points: CNS dysfunction, seizures, gastro-oesophageal reflux, chronic aspiration, possible upper airway obstruction (bulbar involvement/infiltration of the upper airway), hypersplenism, thrombocytopenia and anaemia.
Reference:

Kita T et al. (1998). Anesthetic management involving difficult intubation in a child with Gaucher disease. Masui, 47, 69–73.

Reference:

Tobias JD et al. (1993). Anesthetic considerations in the child with Gaucher disease. Journal of Clinical Anesthesia, 5, 150–3.

Gilbert’s disease
Characteristics: Asymptomatic familial unconjugated non-haemolytic hyperbilirubinaemia.
Key points: Perioperative jaundice may be precipitated by stress/ surgery/ starvation.
Reference:

Taylor S (1984). Gilbert’s syndrome as a cause of postoperative jaundice. Anaesthesia, 39, 1222–4.

Glanzmann’s disease (thrombasthenia)
Characteristics: Lack of membrane protein GPIIb and GPIIIa, normal number and sized platelets, defective aggregation, no clot retraction.
Key points: Moderately severe bleeding diathesis, platelet transfusions sometimes ineffective.
Glomus jugulare tumours
Characteristics: Highly vascular benign tumour of glomus body. Invades locally, may affect cranial nerves, causing progressive deafness and tinnitus.
Key points: Sudden severe haemorrhage during excision (?hypotensive technique), may need to sacrifice local structures (carotid etc.). Consider cerebral protection measures.
Reference:

Braude BM et al. (1986). Management of a glomus jugulare tumour with internal carotid artery involvement Anaesthesia, 41, 861–5.
Reference:

Mather SP, Webster NR (1986). Tumours of the glomus jugulare. Case report and anaesthetic management for the combined two-stage operation. Anaesthesia, 41, 856–60.

Glucagonoma
Characteristics: Rare tumour of alpha cells of pancreatic islets. Marked increases of blood glucagon and glucose levels, potential for significant metabolic and myocardial dysfunction.
Key points: Control of blood glucose-large amounts of glucagon can be released during tumour handling, careful evaluation of nutrition, fluid and electrolytes. Thromboembolic prophylaxis.
Reference:

Nicoll JMV, Catling SJ (1985). Anaesthetic management of glucagonoma. Anaesthesia, 40, 152–7.

Reference:

Sanders WC, Wolpert LA (1991). Anesthesia for glucagonoma resection. Journal of Clinical Anesthesia, 3, 48–52.

Glucose-6-phosphate-dehydrogenase deficiency (see also p. 50)
Characteristics: Predominantly males, attacks of haemolytic anaemia precipitated by infections and some drugs (including aspirin, vitamin K, chloramphenicol).

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Key points: Chronic anaemia (increased 2,3-DPG) of 5–10 g/dl, may benefit from splenectomy.
Glycogenoses (glycogen storage diseases)
Type I (Von Gierke’s disease)
Characteristics: Mental retardation, hepatosplenomegaly, renal enlargement, stomatitis, hypoglycaemic convulsions, bleeding diathesis, lactic acidosis and leucopenia.
Key points: Tendency to hypoglycaemia during fasting, cautious attention to the metabolic and homeostatic derangements, abdominal distension may affect ventilation.
Reference:

Shenkman Z et al. (1996). Anaesthetic management of a patient with glycogen storage disease type 1b. Canadian Journal of Anaesthesia, 43, 467–70.

Type II (Pompe’s disease)
Characteristics: Wide spectrum of severity from neonatal acyanotic cardiac death to normal life expectancy. Features include cardiomegaly, progressive cardiac failure, outflow obstruction, generalized hypotonia, neurological deficits, macroglossia, normal glucose tolerance.
Key points: Macroglossia, cardiomyopathy, postoperative respiratory insufficiency, potential exaggerated hyperkalaemic response to suxamethonium.
Reference:

McFarlane HJ, Soni N (1986). Pompe’s disease and anaesthesia. Anaesthesia, 41, 1219–24.

Type III (Forbes’ disease)
Key points: Perioperative hypoglycaemia.
Type IV (Andersen’s disease)
Characteristics: Hepatosplenomegaly, muscular hypotonia, severe growth retardation, cirrhosis and death before 3 years.
Key points: Hepatic dysfunction, muscle relaxants generally unnecessary, reduced doses of intravenous drugs, prone to heat loss and perioperative hypoglycaemia.
Type V (McArdle’s disease)
Key points: Muscle weakness, cardiac failure.
Goldenhar syndrome (oculoauriculovertebral syndrome, hemifacial microsomia)
Characteristics: Eye and ear abnormalities, micrognathia, maxillary hypoplasia, cleft/high arched palate, cervical synostosis, congenital heart anomalies (Fallot/VSD).
Key points: Difficult intubation, cardiorespiratory and craniovertebral anomalies, atropine-resistant bradycardia.
Reference:

Madan R et al. (1990). Goldenhar’s syndrome: an analysis of anaesthetic management. A retrospective study of seventeen cases. Anaesthesia, 45, 49–52.

Golz-Gorlin syndrome (focal dermal hypoplasia)
Characteristics: Dental/facial asymmetry, stiff neck, hypertension.
Key points: Difficult airway.
Reference:

Ezri T et al. (1994). Anaesthesia for Golz-Gorlin syndrome [letter]. Anaesthesia, 49, 833.

Reference:

Holzman RS (1991). Airway involvement and anesthetic management in Goltz’s syndrome. Journal of Clinical Anesthesia, 3, 422–5, discussion 426.

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Goodpasture’s syndrome
Characteristics: Severe repeated intrapulmonary haemorrhages with fibrosis, hypertension, anaemia, renal failure.
Key points: Restrictive lung defect, renal failure.
Gorham syndrome (‘disappearing bone disease’)
Characteristics: Massive osteolysis-replacement of bone by fibrovascular tissue, pathological fractures, lymphangiomatosis, respiratory and neurological deficits, relapsing pleural effusions, chylothorax/pericardium. Poor prognosis. Most common in second/third decade but can occur at any age.
Key points: Respiratory function assessment, check cervical spine (often involved), avoid suxamethonium (may cause/worsen pathological fractures). Consider ICU respiratory support postoperatively.
Reference:

Szabo C, Habre W (2000). Gorham syndrome: anaesthetic management. Anaesthesia, 55, 157–9.

Groenblad-Strandberg disease
Haemochromatosis (bronze diabetes and haemosiderosis)
Characteristics: Iron deposits in liver, pancreas, joints, skin, and heart.
Key points: Cirrhosis, diabetes, arthritis, late cardiac failure, may be having weekly venesections.
Haemolytic uraemic syndrome
Characteristics: Typical triad of renal failure, haemolytic anaemia and thrombocytopenia. Multisystem disorder may also involve CVS, respiratory, CNS, and hepatic systems.
Reference:

Johnson GD, Rosales JK (1987). The haemolytic uraemic syndrome and anaesthesia. Canadian Journal of Anaesthesia, 34, 196–9.

Haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
Characteristics: Familial telangiectasia of mucous membranes (nose/ oropharynx/viscera/skin), repeated haemorrhages, may have pulmonary AV fistulae, GI bleeding.
Key points: Avoid trauma to mucous membranes, bleeding difficult to control, IV access and line complicated (poor tissues).
Reference:

Waring PH et al. (1990). Anesthetic management of a parturient with Osler-Weber-Rendu syndrome and rheumatic heart disease. Anesthesia and Analgesia, 71, 96–9.

Hallermann-Streiff syndrome
Characteristics: Oculomandibulodyscephaly and dwarfism. (See Dwarfism.)
Key points: Direct laryngoscopy may be difficult and hazardous (brittle teeth, temperomandibular joint dislocation).
Hallervorden-Spatz disease
Characteristics: Rare progressive disorder of basal ganglia, myotonia and dystonic posturing, scoliosis, dementia, trismus.
Key points: Difficult intubation, volatile agents relieve the posturing (returns after discontinuation).
Reference:

Roy C et al. (1983). Anesthetic management of a patient with Hallervorden-Spatz disease. Anesthesiology, 58, 382–4.

Reference:

Keegan MT et al. (2000). Anesthetic management for two-stage computer-assisted, stereotactic thalamotomy in a child with Hallervorden-Spatz disease. Journal of Neurosurgical Anesthesiology, 12, 107–11.

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Hand-Schuller-Christian disease (histiocytic granulomata)
Characteristics: Diabetes insipidus, hepatic failure, pancytopenia, respiratory failure.
Key points: Intubation difficulties, small larynx, electrolyte problems, may be on steroids.
Hartnup’s disease
Characteristics: Defective tubular/jejunal reabsorption of most neutral amino acids leading to tryptophan malabsorption and nicotinamide deficiency, pellagra, psychiatric disorders.
Key points: Cerebellar ataxia
Hay-Wells syndrome
Characteristics: Maxillary hypoplasia.
Key points: Difficult intubation.
Hecht-Beals syndrome (trismus pseudocamptodactyly or Dutch-Kennedy syndrome)
Characteristics: Aracnodactyly, kyphoscoliosis, restricted mandible, multiple joint contractures, crumpled ears.
Key points: Airway difficulties (LMA beneficial), ventilatory defect, mitral valve prolapse, aortic root dilatation.
Reference:

Nagata O et al. (1999). Anaesthetic management of two paediatric patients with Hecht-Beals syndrome. Paediatric Anaesthesia, 9, 444–7.

Reference:

Vaghadia H, Blackstocki D (1988). Anaesthetic implications in trismus psuedocamtodactyly (Dutch-Kennedy or Hecht-Beals) syndrome. Canadian Journal of Anaesthesia, 35, 80–5.

Henoch-Schonlein purpura
Characteristics: Abnormal vascular reaction, normal platelets, nephritis (30%).
Key points: Haemorrhagic risk, renal failure.
Hepatolenticular degeneration (Kinnier-Wilson disease)
Characteristics: Defective copper metabolism, hepatic failure, epilepsy, trismus, weakness.
Key points: Sensitive to muscle relaxants.
Holt-Oram syndrome (hand-heart syndrome)
Characteristics: Rare disorder combining congenital anomalies of heart and upper limbs. Hypoplastic thumbs, hypoplastic clavicles, cardiac anomalies (ASD/VSD/occasionally others), hypoplastic vasculature, arrhythmias and sudden death.
Key points: Potentially difficult venous access (especially central), arrhythmias frequent even with normal anatomy, often previous cardiac surgery.
Reference:

Shono S et al. (1998). Holt-Oram syndrome. British Journal of Anaesthesia, 80, 856–7.

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Homocystinuria
Characteristics: Homocystine excreted in urine, mental handicap, Marfanlike syndrome. (See Marfan’s syndrome.)
Key points: Venous/arterial thrombotic episodes, pulmonary embolisms (requiring heparinisation), hypoglycaemia, renal failure.
Reference:

van den Berg M, Boers GHJ (1996). Homocystinuria: what about mild hyperhomocystinaemia? Postgraduate Medical Journal, 72, 513–18.
Hunter syndrome (mucopolysaccharidosis II)
Characteristics: Widespread accumulation of mucopolysaccharides in tissues.
Key points: Airway problems, may need smaller ETT.
Huntington’s chorea/juvenile Huntington’s disease
Characteristics: Similar conditions, progressive degenerative involuntary movement disorder, choreoathetoid movements, dysphagia, depression and apathy lead to cachexia.
Key points: Risk of regurgitation and pulmonary aspiration, possible associated autonomic neuropathy, poor respiratory function, avoidance of precipitating convulsions and clonic spasms, malnourishment, exaggerated response to thiopentone and suxamethonium.
Reference:

Cangemi CF, Miller RJ (1998). Huntington’s disease: review and anesthetic case management. Anesthesia Progress, 45, 150–3.

Reference:

Gupta K, Leng CP (2000). Anaesthesia and juvenile Huntington’s disease. Paediatric Anaesthesia, 10, 107–9.

Hurler syndrome (gargoylism, mucopolysaccharidosis I)
Characteristics: Most severe of the mucopolysaccaridoses, death at early age. All have similar appearance (gargoylism), short stature, typical facies, short neck, chest deformity and protruberant abdomen, increased muscle tone. Cardiac involvement (aortic and mitral incompetence).
Key points: Difficult intubation due to macroglossia and increased secretions. Prone to chest infections, generally die from pneumonia or cardiac complications.
Hutchinson-Guilford syndrome (premature ageing syndrome)
Hyperviscosity syndrome (Waldenstom’s macroglobulinaemia, multiple myeloma)
Key points: Thrombotic risk, preop plasmapheresis may be needed.
Hypokalaemic familial periodic paralysis
Characteristics: Attacks of severe muscle weakness and flaccid muscle paralysis with low serum K+.
Key points: Perioperative attack may compromise spontaneous ventilation, avoid drugs known to cause K+ shifts (e.g. beta-agonists), risk of arrhythmias, sensitive to muscle relaxants.
Reference:

Ahlawat SK, Sachdev A (1999). Hypokalaemic paralysis. Postgraduate Medical Journal, 75, 193–7.

Reference:

Viscomi CM et al. (1999). Anesthetic management of familial hypokalemic periodic paralysis during parturition. Anesthesia and Analgesia, 88, 1081–2.

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Hypoplastic left heart syndrome
Characteristics: LV hypoplasia, mitral valve hypoplasia, aortic valve atresia, hypoplasia of ascending aorta. Previously 100% mortality.
Key points: Survival depends upon PDA, balance of PVR and SVR (both circulations in parallel supplied by single ventricle), control of pulmonary blood flow, VF may occur with surgical manipulation.
Reference:

Hansen DD, Hickey PR (1986). Anesthesia for hypoplastic left heart syndrome: use of high-dose fentanyl in 30 neonates. Anesthesia and Analgesia, 65, 127–32.

Ichthyosis
Characteristics: Hyperkeratotic plates of flaky/fissured skin.
Key points: Difficulty placing and securing catheters/cannulas/ electrodes (consider bandaging).
Reference:

Smart G, Bradshaw EG (1984). Extradural analgesia and ichthyosis. Anaesthesia, 39, 161–2.

Idiopathic thrombocytopenic purpura
Characteristics: Thrombocytopenia <50 000 cells/mm3, petechiae.
Key points: Avoid heparin or aspirin. May be on steroids, consider platelet infusions, beware rebound thrombosis after splenectomy, minimize airway trauma, avoid regional blocks.
Isaacs’ syndrome (continuous muscle fibre activity syndrome, neuromyotonia, quantal squander)
Characteristics: Autoimmune condition, continuous involuntary muscle fibre activity, delayed relaxation, fasciculation, ataxia, incoordination.
Key points: Anticonvulsants effective, regional blocks acceptable, probable exaggerated response to muscle relaxants.
Reference:

Morgan PJ (1997). Peripartum management of a patient with Isaacs’ syndrome. Canadian Journal of Anaesthesia, 44, 1174–7.

Ivemark syndrome
Characteristics: Asplenia, complex cardiac pathology, abnormal abdominal viscera.
Key points: CVS assessment.
Jervell-Lange-Nielsen syndrome
Characteristics: Congenitally prolonged QT interval and enlarged T wave, deafness, prone to ventricular arrhythmias/cardiac arrest.
Key points: Select drugs and techniques known to minimize catecholamine levels, consider pacemaker insertion/beta-block (for CVS stability).
Reference:

Ryan H (1988). Anaesthesia for caesarean section in a patient with Jervell-Lange-Nielsen syndrome. Canadian Journal of Anaesthesia, 35, 422–4.

Jeune’s syndrome (asphyxiating thoracic dystrophy)
Characteristics: Pulmonary hypoplasia, severe thoracic defect preventing normal intercostal function, renal dysfunction, myocardial dysfunction in older patients.
Key points: CVS, respiratory and renal dysfunction. Minimize ventilator pressures.
Reference:

Borland LM (1987). Anesthesia for children with Jeune’s syndrome (asphyxiating thoracic dystrophy). Anesthesiology, 66, 86.

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Joubert syndrome
Characteristics: Abnormality of respiratory control (brainstem/ cerebellar hypoplasia), hypotonia, ataxia, mental retardation.
Key points: Sensitive to respiratory depressant effects of anaesthetic agents (including. N2O), spontaneously breathing general anaesthetic problematic, avoid opioids, close postoperative observation.
Reference:

Habre W et al. (1997). Anaesthetic management of children with Joubert syndrome. Paediatric Anaesthesia, 7, 251–3.

Reference:

Matthews NC (1989). Anaesthesia in an infant with Joubert’s syndrome. Anaesthesia, 44, 920–1.

Kartagener’s syndrome
Characteristics: Situs inversus, sinusitis, brochiectasis (defective cilia), immunoincompetence.
Key points: Dextrocardia (reverse ECG lead position/defibrillator paddles etc.). CVS and RS function. Preoperative physiotherapy, humidify gases, right lateral displacement (obstetrics).
Reference:

Ho AM, Friedland MJ (1992). Kartagener’s syndrome: anesthetic considerations. Anesthesiology, 77, 386–8.

Kawasaki disease (mucocutaneous lymph node syndrome)
Characteristics: Acute childhood (<5 years) febrile illness, coronary arteritis associated with aneurysms/thrombotic occlusions/IHD/ sudden death.
Key points: Depend upon stage of illness, degree of CVS dysfunction determines technique, invasive lines have a higher incidence of complications, accelerated atherosclerosis.
Reference:

Waldron RJ et al. (1993). Kawasaki disease and anaesthesia. Anaesthesia and Intensive Care, 21, 213–17.

Kearns-Sayer syndrome
Characteristics: Extremely rare mitochondrial myopathy, ophthalmic complications, cardiac conduction abnormalities common (range from bundle branch block to third degree AV block), generalized CNS degeneration. (See Progressive external ophthalmoplegia.)
Key points: Sensitive to induction agents and muscle relaxants. Inhalation induction + deep intubation has been recommended. Risk of complete heart block. Depressed respiratory drive (care with opioids etc.).
Reference:

Lauwers MH et al. (1994). Inhalation anaesthesia and the Kearns-Sayre syndrome. Anaesthesia, 49, 876–8.

Kelly-Paterson syndrome
Kenny-Caffey syndrome
Characteristics: Proportional dwarfism, macrocephaly, eye anomalies, dysmorphic facies, mandibular hypoplasia, episodic hypocalcaemic tetany, may be associated with Mournier-Kuhn syndrome.
Key points: Difficult airway (if mandibular hypoplasia), hypocalcaemia, anaemia, thoracic and skeletal abnormalities.
Reference:

Janke EL et al. (1996). Anaesthetic management of the Kenny-Caffey syndrome using the laryngeal mask. Paediatric Anaesthesia, 6, 235–8.

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King Denborough disease
Characteristics: Slowly progressive myopathy, short stature, kyphoscoliosis, pectus carinatum, cryptorchidism, characteristic facial appearance.
Key points: Malignant hyperpyrexia risk.
Reference:

Watsubo T et al. (2001). Anesthetic management of the King-Denborough syndrome. Masui, 50, 390–3.

Klinefelter syndrome
Characteristics: Chromosomal abnormality 47XXY. Poor sexual development, tall stature, reduced intelligence, vertebral collapse from osteoporosis.
Key points: May have reduced muscle bulk and power. Care during positioning.
Klippel-Feil syndrome
Characteristics: Three main types which differ in severity. Congenital fusion of cervical and/or thoracic vertebrae. Short neck, limited range of motion, possible cervical cord compression, syncope on sudden rotation of head, kyphoscoliosis, cardiac, respiratory, and genitourinary anomalies.
Key points: Skeletal/organ anomalies, difficult intubation, keep neck in neutral axis (basilar insufficiency).
Reference:

Dresner MR, Maclean AR (1995). Anaesthesia for caesarean section in a patient with Klippel-Feil syndrome. The use of a microspinal catheter. Anaesthesia, 50, 807–9.

Reference:

Hunter J, Lee C (1995). Emergency anaesthesia in a patient with Klippel-Feil syndrome. British Journal of Hospital Medicine, 54, 273–4.

Klippel-Trenaunay syndrome (angio-osteohypertrophy)
Characteristics: Generalized haemangiomas, soft tissue hypertrophy, bone overgrowth and/or arteriovenous malformations. (See Proteus syndrome.)
Key points: Possible airway/respiratory problems, high output cardiac failure, consumptive coagulopathy, pulse oximeter may under-read if placed on a limb with large A-V fistula (pulsatile venous flow).
Reference:

Christie IW et al. (1998). Central regional anaesthesia in a patient with Klippel-Trenaunay syndrome. Anaesthesia for Intensive Care, 26, 319–21.

Reference:

Ezri T et al. (1996). Anaesthetic management for Klippel-Trenaunay-Weber syndrome. Paediatric Anaesthesia, 6, 81.

Kneist’s syndrome
Key points: Difficult intubation due to stiff neck.
Reference:

Felius GM et al. (1985). Kniest syndrome and anesthesia. Rev. Esp. Anestesiol. Reanim., 32, 127–9.
Kugelberg Welander syndrome (spinal muscular atrophy type III)
Larsen’s syndrome
Characteristics: Multiple congenital dislocations, flattened face, prominent forehead.
Key points: Subglottic stenosis, unstable cervical spine, difficult intubation, chronic respiratory disease from kypho-scoliosis.
Reference:

Lauder GR, Sumner E (1995). Larsen’s syndrome: anaesthetic implications. Six case reports. Paediatric Anaesthesia, 5, 133–8.

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Laurence-Moon-Biedl syndrome
Characteristics: Obesity, polydactyly, mental retardation, paraparesis, renal anomalies.
Key points: Renal failure, CVS assessment, diabetes insipidus.
Leber’s disease
Key points: Idiopathic hypoventilation, sensitive to sedatives/analgesics. (See Alveolar hypoventilation.)
Reference:

Hunter AR (1984). Idiopathic alveolar hypoventilation in Leber’s disease. Anaesthesia, 39, 781–3.

Leigh’s syndrome
Characteristics: Necrotizing encephalomyelopathy in children.
Key points: Hypotonia, seizures, aspiration.
Reference:

Ward DS (1981). Anesthesia for a child with Leigh’s syndrome. Anesthesiology, 55, 80–1.

Leopard syndrome
Characteristics: Rare inherited progressive disorder, similar to Noonan syndrome, Lentigines, ECG abnormalities, Ocular hypertelorism, obstructive cardiomyopathy, Pulmonary valve stenosis, Abnormal male genitalia, Retarded growth, Deafness.
Key points: CVS assessment will determine technique, cardiomyopathy may be occult.
Reference:

Rodrigo MR et al. (1990). ‘Leopard syndrome’. Anaesthesia, 45, 30–3.

Leprechaunism
Characteristics: ‘Gnome’ facies, cutis laxa, adipose tissue atrophy, dwarfism, extreme wasting, dysphagia requiring parenteral feeding, abnormal endocrine state, mentally defective. (See Dwarfism and Cutis laxa.)
Key points: Maintain blood sugar during starvation (hyperinsulinism).
Reference:

Cantani A (1987). A rare polydysmorphic syndrome: leprechaunism. Review of 49 cases reported in the literature. Annals of Genetics, 30, 221–7.
Lesch-Nyhan syndrome (hyperuricaemia)
Characteristics: Disorder of purine metabolism, hyperuricemia, spasticity, choreoathetosis, dystonia, self-injurious behaviour, aggression, normal cognitive function, possible atlantoaxial instability.
Key points: Sudden unexplained death, seizures, abnormalities in respiration, apnoea, absent adrenergic pressor response-severe bradycardia, caution with exogenous catecholamines, increased incidence of vomiting/regurgitation, chronic pulmonary aspiration.
Reference:

Larson LO, Wilkins RG (1985). Anesthesia and the Lesch-Nyhan syndrome. Anesthesiology, 63, 197–9.

Letterer-Siwe disease (histiocytosis-X)
Characteristics: Histiocytic granulomata in viscera/bones, similar clinical course to acute leukaemia.
Key points: Pancytopenia, anaemia, purpura, haemorrhage, pulmonary infiltration, hepatic involvement, tooth loss.

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Lipodystrophy (total lipoatrophy)
Characteristics: Generalized loss of body fat, fatty fibrotic liver, portal hypertension/ splenomegaly, nephropathy, diabetes mellitus.
Key points: Hepatic failure, hypersplenism, anaemia, thrombocytopenia and possible renal failure.
Lowe syndrome (oculocerebrorenal syndrome)
Characteristics: Metabolic acidosis due to renal-tubular dysfunction, mental retardation, convulsions, glaucoma/cataracts, abnormal skull shape, bone fragility.
Key points: Renal failure, hypotonia, hypocalcaemia.
Reference:

Watoh Y (1992). A series of anesthesia for a child with Lowe’s syndrome. Masui, 41, 1004–7.

Mafucci syndrome
Characteristics: Progressive condition, enchondromatosis and multiple soft tissue haemangiomata (including airway/cervical spine), increased risk of malignancy, intracranial lesions.
Key points: Anaemia, coagulopathy, increased risk of epidural haematoma (spinal lesions), assess for raised ICP, pathological fractures, GI bleeding. May be sensitive to vasodilating drugs.
Reference:

Chan SK et al. (1998). Anaesthetic implications of Maffucci’s syndrome. Anaesthesia and Intensive Care, 26, 586–9.

Mandibulofacial dysostosis (Treacher-Collins syndrome)
Characteristics: Mandibulofacial dysostosis characterized by deafness, hypoplasia of facial bones (mandible, maxilla, and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of auricle. May be associated with other cardiovascular malformations.
Key points: Potential difficult airway, postoperative pharyngeal/ laryngeal oedema may develop. Sleep apnoea, respiratory distress, and sudden death all reported.
Reference:

Rasch DK et al. (1986). Anaesthesia for Treacher-Collins and Pierre-Robin syndromes: a report of three cases. Canadian Anaesthesia Society Journal, 33, 364–70.
Maple syrup urine disease
Characteristics: Branched chain ketoacid decarboxylase deficiency, failure to thrive, fits, cerebral degeneration, neonatal acidosis.
Marchiafava-Michaeli syndrome
Key points: Autoimmune haemolytic anaemia, paroxysmal nocturnal dyspnoea, venous thromboembolism.
Marfan’s syndrome
Characteristics: Inherited disorder of connective tissue metabolism. Tall with long/thin fingers, easy joint dislocation, high arched palate, emphysema, pectus excavatum, cataracts and retinal detachment, spontaneous pneumothorax, coronary thrombosis, dissecting aneurysms, aortic/mitral regurgitation, kyphoscoliosis.

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Key points: Associated abnormalities, minimize laryngoscopic response, control BP, central blocks acceptable.
Reference:

Gordon CF, Johnson MD (1993). Anesthetic management of the pregnant patient with Marfan syndrome. Journal of Clinical Anesthesia, 5, 248–51.

Maroteaux-Lamy syndrome (mucopolysaccharidosis IV)
Characteristics: Kyphoscoliosis, hepatosplenomegaly, recurrent chest infections, myocardial involvement.
Key points: Cardiac failure by 20 years, chronic respiratory infection, poor lung reserve, hypersplenism, anaemia, thrombocytopenia.
Marshall-Smith syndrome
Characteristics: Accelerated bone maturation, dysmorphic facial features, airway abnormalities, death in early infancy from respiratory complications, generally die in infancy.
Key points: Airway difficulties including possible atlantoaxial instability/ laryngomalacia/tracheomalacia. Facemask ventilation may be impossible, maintain spontaneous breathing if possible, consider elective use of nasopharyngeal airway during induction/ emergence.
Reference:

Antila H et al. (1998). Difficult airway in a patient with Marshall-Smith syndrome. Paediatric Anaesthesia, 8, 429–32.

Reference:

Dernedde G (1998). Anaesthetic management of a child with Marshall-Smith syndrome. Canadian Journal of Anaesthesia, 45, 660–3.

Meckel’s syndrome (Mekel-Gruber syndrome)
Characteristics: Microcephaly, micrognathia, congenital cardiac disease, polycystic kidneys.
Key points: Difficult intubation, may have cleft epiglottis, renal failure, encephalocele/cleft palate may be present.
Meig’s syndrome
Characteristics: Large ovarian cyst in peritoneal space, respiratory distress, and poor nutrition.
Key points: Pleural effusion drainage, intravascular volume correction.
Reference:

Hirota M et al. (1995). Perioperative management of patients with Meigs syndrome. Masui, 44, 874–9.

Menkes’ disease
Characteristics: Suppression of copper-dependent enzymes resulting from copper deficiency, kinky hair, convulsions, mental retardation, bone and connective tissue lesions, and hypothermia.
Key points: Seizures, gastro-oesophageal reflux, airway complications (poor pharyngeal motor tone).
Reference:

Tobias JD (1992). Anaesthetic considerations in the child with Menkes’ syndrome. Canadian Journal of Anaesthesia, 39, 712–15.

Merrf syndrome
Characteristics: Mitochondrial encephalomyopathy, mixed seizures, myoclonus, progressive ataxia, spasticity, mild myopathy, growth retardation, deafness, dementia.

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Mikulicz’s syndrome
Characteristics: Salivary and lachrymal gland enlargement.
Key points: Glandular tissue may complicate airway management, anticholinergics probably best avoided.
Miller-Fisher syndrome
Characteristics: Variant of Guillain Barre syndrome (p. 197).
Millers syndrome
Characteristics: Rare congenital disorder with facial features similar to Treacher-Collins syndrome. Limb abnormalities, congenital heart disease (ASD/VSD/PDA).
Key points: As for Mandibulofacial dysostosis. Consider early tracheostomy for airway maintenance (especially if repeated procedures planned), difficult venous access, gastric reflux.
Reference:

Stevenson GW (1991). Anaesthetic management of Miller’s syndrome. Canadian Journal of Anaesthesia, 38, 1046–9.

Moebius syndrome
Characteristics: Multiple cranial nerve palsies, orofacial malformations, limb anomalies, and a high incidence of other anomalies, including congenital cardiac disease, spinal anomalies, corneal abrasions, and peripheral neuropathies.
Key points: Difficult or failed intubation, potential for problems with aspiration of oral secretions due to salivary drooling (consider antisialogogue premedication).
Reference:

Ferguson S (1996). Moebius syndrome: a review of the anaesthetic implications. Paediatric Anaesthesia, 6, 51–6.

Morquio syndrome (mucopolysaccharidosis IV)
Characteristics: Short stature, short neck, hypoplastic odontoid leads to atlantoaxial instability (compression of long tracts and paraplegia can occur), prominent sternum, loss of muscle tone, hypermobility and loose skin, aortic incompetence.
Key points: Difficult airway due to short neck and instability, potential narrowed lumen (infiltration), respiratory and cardiac failure in early adult life, end organ dysfunction, sleep apnoea.
Reference:

Tobias JD (1999). Anesthetic care for the child with Morquio syndrome: general versus regional anesthesia. Journal of Clinical Anesthesia, 11, 242–6. (See Further reading.)
Moschkowitz disease (thrombotic thrombocytopenic purpura)
Characteristics: Haemolytic anaemia, thrombocytopenia, small vessel disease, neurological symptoms, renal disease.
Key points: Assess renal function, bleeding risk.
Mournier-Kuhn syndrome
Characteristics: Diffuse tracheobronchomegaly, communicating paratracheal cysts.
Key points: Intubate trachea and pack pharynx if mechanical ventilation needed.
Reference:

Sane AC et al. (1992). Tracheobronchiomegaly. The Mournier-Kuhn syndrome in a patient with Kenny-Caffey syndrome. Chest, 102, 618–19.

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Moya-moya disease (in the German literature ‘Nishimoto-Takeuchi-Kudo-Suzuki’s disease’)
Characteristics: Severe stenosis of internal carotid arteries, fine network of vessels around basal ganglia.
Key points: Neurological deterioration can follow general anaesthetic—optimize cerebral perfusion (control of BP, CO2 etc.).
Reference:

Bingham RM, Wilkinson DJ (1985). Anaesthetic management in Moya-moya disease. Anaesthesia, 40, 1198–202.

Mucopolysaccharidoses
Characteristics: Metabolic disease characterized by abnormal accumulation and excretion of mucopolysaccharides, see individual syndromes (Hunter, Hurler, Morquio, Maroteaux-Lamy, and Scheie syndromes) for full details.
Reference:

Moores C et al. (1996). Anaesthesia for children with mucopolysaccharidoses. Anaesthesia and Intensive Care, 24, 459–63.

Multiple myelomatosis
Characteristics: Neoplastic proliferation of plasma cells characterized by immunoglobulin disorders.
Key points: Renal failure, haemorrhagic tendency, increased susceptibility to infections, pathological fractures (care positioning), hyperviscosity syndrome, anaemia, and hypercalcemia.
Reference:

Wake M (1995). Anesthetic experiences in 3 patients with multiple myeloma. Masui, 44, 1282–4.

Myasthenic syndrome (see also p. 191)
Characteristics: Paraneoplastic condition causing defective acetylcholine release at neuromuscular junctions, proximal muscle weakness in ocular and/or bulbar muscles, post tetanic facilitation.
Key points: Muscle weakness, sensitive to muscle relaxants, risk of respiratory complications, autonomic dysfunction, impaired oesophageal motility.
Reference:

Seneviratne U, deSilva R (1999). Lambert-Eaton myasthenic syndrome. Postgraduate Medical Journal, 75, 516–20.
Reference:

Telford RJ, Holloway TE (1990). The myasthenic syndrome: anaesthesia in a patient treated with 3, 4 diaminopyridine. British Journal of Anaesthesia, 64, 363.

Myositis ossificans
Characteristics: Bony infiltration of tendons, facia, muscle, aponeuroses.
Key points: Airway problems if neck involved. Thoracic involvement reduces compliance, asphyxia and aspiration.
Myotonia congenita (Thomsen’s disease) (see also p. 192)
Characteristics: Muscular disorder, widespread dystrophy and/or hypertrophy, more myotonia than other muscle diseases, palatopharyngeal dysfunction, cardiomyopathy.
Key points: Aspiration risk, strong association with MH, myotonia not responsive to muscle relaxants. Can be precipitated by cold, surgery, diathermy, anticholinesterases. Suxamethonium may cause myotonia with difficult intubation/ventilation.

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Nance Insley syndrome (otospondylomegaepiphyseal dysplasia ‘OSMED’)
Characteristics: Disrupted cartilaginous growth leading to midface hypoplasia, disproportionate short stature and short limbs. Progressive sensorineural deafness, cleft palate, micrognathia, joint contractures, vertebral abnormalities.
Key points: Possible difficult airway.
Reference:

Denton R (1996). Anaesthetic problems in the Nance Insley syndrome. Anaesthesia, 51, 100–1.

Nemaline myopathy
Characteristics: Congenital myopathy, non-progressive hypotonia and symmetrical muscle weakness (including skeletal and diaphragm but sparing cardiac and smooth), skeletal deformities, facial dysmorphism.
Key points: Airway difficulties, poor respiratory function (restrictive), chronic aspiration, abnormal drug responses (including relaxants), rarely cardiomyopathy, MH not described.
Reference:

Cunliffe M, Burrows FA (1985). Anaesthetic implications of nemaline rod myopathy. Canadian Anaesthesia Society Journal, 32, 543–7.
Reference:

Stackhouse R (1994). Anesthetic complications in a pregnant patient with nemaline myopathy. Anesthesia and Analgesia, 79, 1195–7.

Nesidioblastosis
Characteristics: Autonomous insulin secretion unaffected by blood glucose. Neonatal/infantile apnoea, hypoglycaemia, hypotonia, seizures.
Key points: Total pancreatectomy needed, monitor perioperative blood glucose.
Reference:

Bellwoar C et al. (1996). Anaesthetic management of a neonate with nesidoblastosis. Paediatric Anaesthesia, 6, 61–3.

Neurofibromatosis
Characteristics: Café au lait spots, astrocytomas, seizures, kyphoscoliosis.
Key points: Potential difficult airway and positioning, avoid proconvulsants, occult phaeochromocytoma in 5%.
New variant Creutzfeldt-Jacob disease (nvCJD) (see also p. 518)
Characteristics: Psychiatric symptoms occur early. Progressive neurological signs including ataxia, involuntary movements and cognitive impairment develop. Similar to CJD.
Reference:

Weihl CC, Roos RP (1999). Creutzfeldt-Jakob disease, new variant Creutzfeldt-Jakob disease, and bovine spongiform encephalopathy. Neurology Clinics, 17, 835–59.
Niemann-Pick disease
Characteristics: Accumulation of sphingomyelin in reticuloendothelial macrophages of many organs (liver/spleen/bone marrow), hepatosplenomegaly, mental retardation.
Key points: Anaemia, thrombocytopenia and respiratory failure.
Noonan’s syndrome
Characteristics: Short stature, mental retardation, cardiac defects (pulmonary stenosis, VSD, hypertrophic cardiomyopathy), micrognathia, short webbed neck, pectus excavatum, vertebral anomalies, renal failure, lymphoedema.

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Key points: Possible difficult intubation, cardiac dysfunction, platelet and coagulation defects, check renal function.
Reference:

Grange CS (1998). Anaesthesia in a parturient with Noonan’s syndrome. Canadian Journal of Anaesthesia, 45, 332–6.

Reference:

McLure HA, Yentis SM (1996). General anaesthesia for caesarean section in a parturient with Noonan’s syndrome. British Journal of Anaesthesia, 77, 665–8.

Ondine’s curse
Opitz-Frais syndrome (hypospadias dysphagia syndrome)
Key points: Recurrent pulmonary aspiration of intestinal contents, achalasia of the oesophagus, subglottic stenosis, hypertelorism, micrognathia, high arched palate.
Reference:

Bolsin SN, Gillbe C (1985). Opitz-Frias syndrome. A case with potentially hazardous anaesthetic implications. Anaesthesia, 40, 1189–93.

Osler-Weber-Rendu syndrome
Osteogenesis imperfecta (fragilitas ossium)
Characteristics: Inherited connective tissue disorder, bone fragility, frequent fractures and/or deformities, blue sclera.
Key points: Teeth easily damaged, excessive bleeding, tendency to hyperthermia—probably not MH.
Reference:

Cho E et al. (1992). Anaesthesia in a parturient with osteogenesis imperfecta. British Journal of Anaesthesia, 68, 422–3.

Osteopetrosis (Albers-Schonberg disease)
Characteristics: Group of disorders characterized by increased bone in the skeleton associated with changes in modelling with overgrowth. Range of severity, brittle bones, nerve compression syndromes, hearing loss, mental retardation, bone marrow involvement leads to leucoerythroblastic anaemia.
Key points: Airway/ventilation problems, cervicomedullary stenosis (cord trauma during intubation), thrombocytopenia, hepatosplenomegaly (reduced FRC), reduced myocardial contractility (hypocalcaemia). Careful moving and positioning—risk of fractures, head and mandibular involvement may complicate intubation.
Reference:

Burt N et al. (1999). Patients with malignant osteopetrosis are at high risk of anesthetic morbidity and mortality. Anesthesia and Analgesia, 88, 1292–7.

Paramyotonia congenita (Eulenberg’s disease)
Characteristics: Variant of Hyperkalaemic periodic paralysis, cold induced myotonia, flaccid paralysis, worsened by exercise.
Key points: Assess sensitivity to cold and frequency of myotonic episodes. Warm theatre/fluids/patient. Normal response to non-depolarizing muscle relaxants. Avoid suxamethonium. Central neural blocks safe. No MH tendancy.
Reference:

Grace RF, Roach VJ (1999). Caesarean section in a patient with paramyotonia congenita. Anaesthesia and Intensive Care, 27, 534–7.

Patau’s syndrome (trisomy 13)
Characteristics: Multiple craniofacial, cardiac, neurological, and renal anomalies. ‘Rockerbottom feet’.

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Key points: Difficult airway, thoracic kyphoscoliosis, ineffective cough, postoperative respiratory problems, apnoeic episodes, full cardiac assessment (80% have severe malformations), impaired renal function, polycythaemia and platelet dysfunction.
Reference:

Reference:

Pollard RC, Beasley JM (1996). Anaesthesia for patients with trisomy 13 (Patau’s syndrome). Paediatric Anaesthesia, 6, 151–3.

Pemphigus vulgaris
Characteristics: Autoimmune disease causing impaired cell adhesion within the epidermis. Bullous eruptions of skin and mucous membranes.
Key points: Avoid friction (monitors, lines, airway manipulation, positioning, etc.). Possible ulceration/bullae/oedema of glottis after intubation (lubricate everything well), careful fluid/electrolyte balance (include losses from bullae). Perioperative steroids to reduce exacerbation, regional/general anaesthetic acceptable.
Reference:

Mahalingham TG et al. (2000). Anaesthetic management of a patient with pemphigus vulgaris for emergency laparotomy. Anaesthesia, 55, 160–2.

Reference:

Vatashsky E, Aronson HB (1982). Pemphigus vulgaris: anaesthesia in the traumatised patient. Anaesthesia, 37, 1195–7.

Pendred’s syndrome
Characteristics: Genetic defect in thyroid hormone synthesis, hypothyroidism, goitre, deafness.
Key points: As for Hypothyroidism.
Reference:

Reardon W (1999). Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. Journal of Medical Genetics, 36, 595–8.

Pfeiffer’s syndrome (acrocephalosyndactyly type V)
Characteristics: Growth and developmental retardation, sagittal craniosynostosis, hypertelorism, low set ears, micrognathia with mandibular ankylosis, congenital heart defects, and genital anomalies.
Key points: Solid cartilaginous trachea lacking rings may be present.
Reference:

Moore MH et al. (1995). Pfeiffer syndrome: a clinical review. Cleft Palate and Craniofacial Journal, 32, 62–70.
Pharyngeal pouch
Characteristics: Epithelial lined diverticulum above the upper oesophageal sphincter, often asymptomatic, sometimes associated with dysphagia.
Key points: Tracheal soiling not prevented by cricoid pressure. Empty pouch manually (by patient) prior to induction or with large bore nasopharyngeal tube. Consider intubation in head down position or under local anaesthetic.
Phenylketonuria
Characteristics: Defective phenylalanine-4-hydroxylase, cerebral damage, mental retardation, epilepsy.
Key points: Sensitive to opioids/barbiturates, consider inhalation induction, monitor blood glucose.
Reference:

Celiker V et al. (1993). Anesthetic management of a patient with hereditary fructose intolerance and phenylketonuria. Turkish Journal of Pediatrics, 35, 127–30.

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Pickwickian syndrome
Characteristics: Morbid obesity, episodic somnolence, hypoventilation.
Key points: Hypoxaemia, polycythaemia, pulmonary hypertension, cardiac failure, difficult access/positioning, prone to wound infection, DVT/PE risk. Sensitive to respiratory depressants, regional anaesthesia ideal for peripheral surgery. Alert ICU following major surgery, CPAP beneficial. (See p. 67.)
Reference:

Neuman GG et al. (1986). Perioperative management of a 430-kilogram (946-pound) patient with Pickwickian syndrome. Anesthesia and Analgesia, 65, 985–7.

Pierre-Robin syndrome
Characteristics: Cleft palate, micrognathia, mandibular hypoplasia, congenital heart disease.
Key points: Difficult airway, receeding mandible fails to hold tongue forward in normal position-falls against posterior pharyngeal wall, assess for heart anomalies.
Reference:

Rasch DK et al. (1986). Anaesthesia for Treacher-Collins and Pierre-Robin syndromes: a report of three cases. Canadian Anaesthesia Society Journal, 33, 364–70.
Plott’s syndrome
Characteristics: Laryngeal-abductor paralysis, psychomotor retardation and sixth nerve palsy.
Key points: Stridor at rest, cyanosis during crying/exertion, postoperative upper airway control.
Reference:

McDonald D (1998). Anaesthetic management of a patient with Plott’s syndrome. Paediatric Anaesthesia, 8, 155–7.

Plummer-Vinson syndrome (Patterson-Brown-Kelly syndrome)
Characteristics: Upper oesophageal web, dysphagia, iron-deficiency anaemia, glossitis, angular stomatitis, increased risk of postcricoid carcinoma.
Key points: Regurgitation risk, anaemia.
Reference:

Hoffman RM, Jaffe PE (1995). Plummer-Vinson syndrome. A case report and literature review. Archives of Internal Medicine, 155, 2008–11.

Pneumatosis cystoides intestinalis
Characteristics: Multiple intramural gas-filled cysts in the gastrointestinal tract, disturbed bowel function, may be associated with systemic sclerosis.
Key points: Avoid nitrous oxide.
Reference:

Sutton DN, Poskitt KR (1984). Pneumatosis cystoides intestinalis. Nitrous oxide anaesthesia and the rapid effect of oxygen therapy. Anaesthesia, 39, 776–80.

Pompe’s disease
Post-poliomyelitis syndrome
Characteristics: New neuromuscular symptoms occurring > 15 years after clinical stability has been attained in patients with a prior history of symptomatic poliomyelitis. Limb atrophy, slow progression with periods of stabilization.
Key points: Respiratory muscle involvement, bulbar dysfunction.

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Potter’s syndrome (bilateral renal agenesis)
Characteristics: Incompatible with life, bilateral renal agenesis, pulmonary hypoplasia, characteristic facial features.
Key points: Ventilation may be impossible despite intubation.
Reference:

Van der Weyden (1982). Potter’s syndrome [letter]. Anaesthesia and Intensive Care, 10, 90.

Prader-Willi syndrome
Characteristics: Mental retardation, severe obesity, polyphagia, dental caries, short stature, congenital muscle hypotonia, hypogonadism, cardiovascular anomalies.
Key points: Obesity may be extreme, hypotonia, difficult venous access, altered thermoregulation, arrythmias, convulsions, blood glucose should be maintained intravenously during starving, perioperative respiratory problems may occur.
Reference:

Dearlove OR et al. (1998). Anaesthesia and Prader-Willi syndrome. Paediatric Anaesthesia, 8, 267–71.

Progeria (premature ageing)
Characteristics: Feature of many syndromes.
Key points: IHD/hypertension/cardiomyopathy at young chronological age. Plan technique around ‘physiological age’.
Reference:

Nguyen NH et al. (2001). Anaesthesia for a child with progeria. Paediatric Anaesthesia, 11, 370–1.

Progressive external ophthalmoplegia (PEO)
Key points: Sensitive to all induction agents.
Reference:

James RH (1986). Induction agent sensitivity and ophthalmoplegia plus [letter]. Anaesthesia, 41, 216.

Proteus syndrome
Characteristics: Congenital progressive hamartomatous disorder, partial bilateral gigantism, hemihypertrophy (often one whole side of the body), macrocephaly, scoliosis, cystic lung changes. (probably explains ‘the Elephant Man’). (See Klippel-Trenaunay syndrome.)
Key points: Difficult airway (See Bullous cystic lung disease.)
Reference:

Pennant JH, Harris MF (1991). Anaesthesia for Proteus syndrome. Anaesthesia, 46, 126–8.

Prune-belly syndrome (Eagle-Barrett syndrome)
Characteristics: Almost exclusively male, abdominal muscle deficiency, complex genitourinary malformations and bilateral undescended testes. May die in neonatal period from pulmonary hypoplasia, also associated with congenital heart disease, skeletal anomalies and imperforate anus.
Key points: Optimize pulmonary function, poor cough due to muscle weakness, beware postoperative respiratory distress, careful fluid balance. Renal failure may coexist.
Reference:

Heisler DB et al. (1994). Pectus excavatum repair in a patient with prune belly syndrome. Paediatric Anaesthesia, 4, 267–9.

Reference:

Henderson AM et al. (1987). Anaesthesia in the prune belly syndrome. Anaesthesia, 42, 54–60.

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Pseudoxanthoma elasticum (Groenbald-Strandberg disease)
Characteristics: Hereditary disorder of elastic tissue, four types with variable features including fragile connective tissue, vascular complications (slow progressive occlusive arterial disease), retinal changes with early blindness and myopia, high arched palate, blue sclera. Lungs unaffected.
Key points: Fragile tissue-haemorrhage with minor trauma (including airway). High incidence of hypertension, IHD, valvular disease, dysrythmias. Care in fixing IV lines.
Reference:

Krechel SL et al. (1981). Anesthetic considerations in pseudoxanthoma elasticum. Anesthesia and Analgesia, 60, 344–7.

Reference:

Levitt MW, Collison JM (1982). Difficult endotracheal intubation in a patient with pseudoxanthoma elasticum. Anaesthesia in Intensive Care, 10, 62–4.

Pulmonary cysts
Key points: Can increase in size and rupture during anaesthesia (especially with nitrous oxide).
Refsum’s disease
Characteristics: Defective metabolism of phytanic acid, sensorimotor polyneuropathy, ataxia, retinal damage, deafness.
Key points: Document pre-existing neurology before performing regional blocks.
Rett syndrome
Characteristics: Devastating disabling female neurological disease, abnormal respiratory control (hyperventilation/apnoea) when awake, scoliosis, long QT, sudden death.
Key points: Full respiratory assessment ideal but may be technically difficult, respiratory pattern normal under general anaesthetic, prolonged weaning, high pain threshold (abnormal processing).
Reference:

Dearlove OR, Walker RW (1996). Anaesthesia for Rett syndrome. Paediatric Anaesthesia, 6, 155–8.

Rigid spine syndrome
Characteristics: Very limited spinal flexion, generalized proximal limb weakness, limb contractures, progressive scoliosis, restrictive ventilatory defect, pulmonary hypertension, RV failure.
Key points: Difficult intubation, flexible ETT provides better fit in hyperextended trachea. Avoid suxamethonium (K+). Cardiomyopathy, check ECG (conduction defects), low MH risk, care with muscle relaxants, careful positioning/ padding, consider HDU/ICU postoperatively.
Reference:

Jorgensen BG et al. (1999). Anaesthetic implications of rigid spine syndrome. Paediatric Anaesthesia, 9, 352–5.

Riley-Day syndrome
Romano-Ward syndrome
Characteristics: Congenital delay of cardiac depolarisation, prolonged Q-T interval.
Key points: Sudden death at any age during induction of anaesthesia, ?consider pacing preoperatively.
Reference:

Ponte J, Lund J (1981). Prolongation of the Q-T interval (Romano-Ward syndrome): anaesthetic management. British Journal of Anaesthesia, 53, 1347–50.

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Rubinstein-Taybi syndrome
Characteristics: Microcephaly, mental retardation, broad thumbs and toes, craniofacial abnormalities, recurrent respiratory infections, congenital heart disease (33%).
Key points: Difficult airway, search for CVS disease (arrhythmias occur), chronic lung disease.
Reference:

Critchley LA et al. (1995). Anaesthesia in an infant with Rubinstei-Taybi syndrome. Anaesthesia, 50, 37–8.

Reference:

Stirt JA (1981). Anesthetic problems in Rubinstein-Taybi syndrome. Anesthesia and Analgesia, 60, 534–6.

Russell-Silver syndrome
Characteristics: Short stature, facial and limb assymetry, mandibular hypoplasia, micrognathia, macroglossia, sweating. Fasting hypoglycaemia, mental retardation, congenital heart disease may coexist.
Key points: Difficult airway (including mask fit), intra-operative glucose monitoring, temperature control (minimal body fat). Monitor neuromuscular block (normal doses may relatively underdose).
Reference:

Dinner M et al. (1994). Russell-Silver syndrome: anesthetic implications. Anesthesia and Analgesia, 78, 1197–9.

Saethre-Chotzen syndrome
Characteristics: Craniosynostosis, micrognathia, renal failure.
Key points: Difficult intubation.
Scheie syndrome (mucopolysaccharidosis V)
Characteristics: Metabolic disease characterized by abnormal accumulation and excretion of mucopolysaccharides.
Key points: Ischaemic heart disease, valvular insufficiency, difficult intubation, joint stiffness, and mental retardation.
Reference:

Nakayama H et al. (1994). Anesthesia in a patient with Scheie syndrome. Masui, 43, 1385–8. (See also Further reading.)
Scimitar syndrome
Key points: Anomalous venous drainage of the right lung into the inferior vena cava, right lung hypoplasia, scimitar-shaped radiographic shadow of the anomalous vein gives the syndrome its name.
Seckel syndrome
Characteristics: Rare syndrome of chromosome aberration, bird-headed dwarfism, microcephalus, other minor deformities.
Key points: Preoperative laryngeal and renal assessments.
Reference:

Shiraishi N et al. (1995). Anesthetic management of Seckel syndrome: a case report. Masui, 44, 735–8.

Shprintzen syndrome (velocardiofacial syndrome)
Characteristics: Facial dysmorphism, cleft palate, cardiovascular malformations, mild/moderate mental retardation/learning difficulties.

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Reference:

Meinecke P et al. (1986). The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients. European Journal of Pediatrics, 145, 539–44.

Shy-Drager syndrome (central nervous and autonomic degeneration)
Characteristics: Progressive neurovegetative disorder with primary autonomic failure, severe orthostatic hypotension with syncope, anhydrosis, disordered thermoregulation, impotence/urinary incontinence, respiratory obstruction/sleep apnoea.
Key points: Increased aspiration risk (gut motility disorder plus laryngeal weakness), IPPV may cause CVS instability (reduced venous return), ensure normovolaemia. Regional blocks used successfully, consider fludrocortisone to sustain plasma volume.
Reference:

Dewhurst A, Sidebottom P (1999). Anaesthetic management of a patient with multiple system atrophy (Shy-Drager syndrome) for urgent hip surgery. Hospital Medicine, 60, 611.

Reference:

Niquille M et al. (1998). Continuous spinal anesthesia for hip surgery in a patient with Shy-Drager syndrome. Anesthesia and Analgesia, 87, 396–9.

Simmond’s syndrome and Sheehan’s syndrome (postpartum pituitary necrosis)
Characteristics: Pituitary infarction following postpartum haemorrhage, variable degree of pituitary insufficiency.
Key points: Assess endocrine derangement.
Sipple syndrome (multiple endocrine adenomatosis type IIa)
Characteristics: Phaeochromocytoma, medullary carcinoma of thyroid with or without parathyroid hyperplasia.
Key points: Assess degree of endocrine dysfunction, treat as for Phaeochromocytoma.
Sjogren’s syndrome (keratoconjunctivitis sicca)
Characteristics: Dry eyes without rheumatoid arthritis, may also have dysphagia/ abnormal oesophageal motility, other autoimmune disease, renal tubular defects, pulmonary hypertension, peripheral neuropathy, vasculitis.
Key points: Assess for other systemic conditions. Worsened by anticholinergic drugs, improved by humidification.
Reference:

Takahashi S et al. (1990). Anesthetic management of a patient with Sjogren’s syndrome and pulmonary fibrosis. Masui, 39, 1393–6.

Smith-Lemli-Opitz syndrome
Characteristics: Micrognathia, mentally defective, thymic hypoplasia.
Key points: Difficult intubation, intrinsic lung disease, possibly susceptible to infection.
Reference:

Choi PT, Nowaczyk MJ (2000). Anesthetic considerations in Smith-Lemli-Opitz syndrome. Canadian Journal of Anaesthesia, 47, 556–61.

Spinal muscular atrophy
Characteristics: Peripheral motor neurons affected, upper motor neurons spared. Types I-IV increase in rate of progression, muscular wasting. (See also Amyotrophic lateral sclerosis.)

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Key points: Weak respiratory muscles (IPPV advisable), abnormal reaction to muscle relaxants. If relaxants are essential monitor blockade and ensure full reversal. Avoid suxamethonium (K+ and myotonic contractures). Postoperative respiratory support may be indicated, aspiration risk with bulbar involvement.
Reference:

Shime N et al. (1990). Anesthetic management of a patient with progressive spinal muscular atrophy. Masui, 39, 918–20.

Strumpell’s disease
Characteristics: Progressive spastic paresis predominantly affecting lower extremities.
Key points: Avoid suxamethonium, sensitive to non-depolarizing muscle relaxants, regional anaesthesia probably acceptable, poor respiratory function/reserve.
Reference:

McTiernan C, Haagenvik B (1999). Strumpell’s disease in a patient presenting for Cesarean section. Canadian Journal of Anaesthesia, 46, 679–82.

Sturge-Weber syndrome
Characteristics: Unilateral angiomatous lesions of the leptomeninges/ upper face, contralateral hemiparesis, seizures, mental retardation.
Key points: Full evaluation for associated abnormalities, careful intubation/ extubation (angiomas of mouth/upper airway), prevent rise in ICP/IOP.
Reference:

Batra RK et al. (1994). Anaesthesia and the Sturge-Weber syndrome. Canadian Journal of Anaesthesia, 41, 133–6. (See also Further reading.)
Takayasu’s disease (pulseless disease, occlusive thromboaortopathy, or aortic arch syndrome)
Characteristics: Chronic autoimmune inflammatory disease, elastic tissue replaced by fibrous tissue leading to blood vessel narrowing/ occlusion/ aneurysms (preferentially large arteries-aorta and branches) and hence its alternative names. Often self-limiting.
Key points: Hypertension, IHD, cerebrovascular disease. Control cerebral perfusion (BP, CO2 etc.). If on steroids may require supplement, non-invasive blood pressure measurements may be inaccurate. Many have postoperative CVS complications from poorly controlled hypertension.
Reference:

Henderson K, Fludder P (1999). Epidural anaesthesia for caesarean section in a patient with severe Takayasu’s disease. British Journal of Anaesthesia, 83, 956–9.

Reference:

Kawaguchi M et al. (1993). Intraoperative monitoring of cerebral haemodynamics in a patient with Takayasu’s arteritis. Anaesthesia, 48, 496–8.

Tangier disease (familial alpha-lipoprotein deficiency)
Characteristics: Deficient HDL apoprotein, accumulation of cholesterol in reticuloendothelial tissue, enlarged orange tonsils, hepatosplenomegaly, corneal opacities, polyneuropathy.
Key points: Sensitivity to muscle relaxants, IHD, anaemia, thrombocytopenia.
TAR syndrome (thrombocytopenia, absent radius)
Key points: May also have Fallot’s tetralogy.
Tay-Sachs disease (familial amaurotic idiocy)
Characteristics: Accumulation of GM2 gangliosides in the CNS and peripheral nerves, progressive cerebral degeneration, seizures, dementia, blindness,

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death before 2 years, characteristic macular cherry spot appearance.

Key points: No documented problems, progressive neurology leads to respiratory complications.
Thrombotic thrombocytopenic purpura
Characteristics: Rare severe disease composing triad of haemolytic anaemia, consumptive thrombocytopenia, CNS dysfunction. Often scheduled for therapeutic splenectomy.
Key points: Preferably postpone elective surgery until period of remission. Check coagulation, renal, liver function. Consider prophylactic antiplatelet drugs, corticosteroids. platelet transfusion contraindicated (may worsen disease). Use packed cells and FFP, strict asepsis (often immunocompromised), avoid IM route, avoid nasal intubation, control BP (renal and cerebral perfusion), care with positioning.
Reference:

Pivalizza EG (1994). Anesthetic management of a patient with thrombotic thrombocytopenic purpura. Anesthesia and Analgesia, 79, 1203–5.

Tourette syndrome
Characteristics: Profane vocalizations, repetitious speech, muscle jerking.
Key points: Do not confuse tic like behaviour with seizure activity on induction/ emergence. Sedating premedication beneficial, continue normal medication, pimozide may cause prolonged Q-T.
Reference:

Morrison JE, Lockhart CH (1986). Tourette syndrome: anaesthetic implications. Anesthesia and Analgesia, 65, 200–2.

Toxic epidermal necrolysis (‘scalded skin syndrome’)
Characteristics: Split at level of stratum granulosum, epidermal erythema/ blistering/necrosis, worsened by lateral shearing forces. Can be drug related.
Key points: Prevention of friction (monitors, lines, airway manipulation, positioning, etc.), consider fluid losses from blisters/exposed areas of dermis.
Treacher-Collins syndrome
Trisomy 13
Trisomy 18
Trisomy 21 (Down’s syndrome)
See p. 212.
Tuberous sclerosis (Bourneville’s disease)
Characteristics: Neurocutaneous syndrome, facial angiofibromas, epilepsy, mental retardation, CVS/CNS/renal hamartomas.
Key points: Hamartomas may affect airway/lungs/CVS with spontaneous rupture/bleeding. Spontaneous pneumothoraces, careful positioning and padding, avoid proconvulsants, consider full preoperative CVS assessment (cardiac rhabdomyoma).
Reference:

Schweiger JW et al. (1994). The anaesthetic management of the patient with tuberous sclerosis complex. Paediatric Anaesthesia, 4, 339–42. (See also Further reading.)

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Turner’s syndrome
Characteristics: XO chromosome, micrognathia, short webbed neck, coarctation/ dissecting aortic aneuryms/pulmonary stenosis, renal anomaly (50%).
Key points: Possible difficult intubation, assess CVS/renal function, care with renally excreted drugs.
Urbach-Wiethe disease
Characteristics: Type of histiocytosis (see Hand-Schuller-Christian disease), hyaline deposits in larynx and pharynx-hoarseness/ aphonia.
Key points: Cautious intubation, laryngeal opening may be small.
Urine drinking in psychiatric patients
Characteristics: Produces moderate to severe hyponatraemia.
Key points: Correct electrolyte abnormality, consider other aspects of psychiatric condition.
Von Recklinghausen’s disease
Von Willebrand’s disease (pseudohaemophilia)
See p. 140.
WAGR syndrome
Characteristics: Wilms tumour, anirida, genitourinary abnormalities, retardation.
Weaver’s syndrome
Characteristics: Unusual craniofacial appearance, micrognathia.
Key points: Airway/intubation problems, may have large stature in adulthood.
Weber-Christian disease
Characteristics: Global fat necrosis (including retroperitoneal, pericardial, peritoneal, meningeal).
Key points: Associated organ dysfunction (e.g. adrenals, constrictive pericarditis). Avoid trauma to superficial fat during movement, positioning during surgery (cold, heat, pressure).
Wegener’s granuloma
Characteristics: Necrotizing granulomas in inflamed vessels of multiple organ systems (CNS/CVS/renal/RS).
Key points: Consider laryngeal stenosis, pneumonia, bronchial destruction, CVS valvular dysfunction, abnormal cardiac conduction, arteritis (cerebral aneurysms, arterial line difficulty), IHD, renal failure, peripheral neuropathy.
Welander’s muscular atrophy
Characteristics: Peripheral muscular atrophy, good prognosis.
Key points: Sensitive to thiopental, muscle relaxants and opioids.
Werdnig-Hoffman disease (spinal muscular atrophy type I acute, and type II chronic)

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Wermer syndrome (type 1 endocrine adenomatosis)
Characteristics: Parathyroid, pituitary, adrenal, thyroid adenomas and pancreas islet cell tumours—can all coexist.
Key points: Assess degree of different endocrine dysfunctions.
Werner syndrome (premature aging syndrome)
Wiedemann-Rautenstrauch syndrome (premature aging syndrome)
William’s syndrome
Characteristics: Congenital stenosis of aortic/pulmonary valves, hypocalcaemia in infancy (20%), stellate blue eyes.
Wilson’s disease
Characteristics: Inborn error of copper metabolism, basal ganglia degeneration, neurological symptoms, hepatic and renal failure.
Key points: Respiratory complications, difficulty reversing muscle relaxants.
Reference:

el Dawlatly AA et al. (1992). Anesthetic management for cesarean section in a patient with Wilson’s disease. Middle East Journal of Anesthesiology, 11, 391–7.

Wiskott-Aldrich disease
Characteristics: Faulty presentation of antigen to macrophages, thrombocytopenia.
Key points: Immunodeficiency, recurrent infections, anaemia, coagulopathy.
Wolf-Hirschorn syndrome
Characteristics: Rare chromosomal abnormality, severe psychomotor retardation, seizures, VSD/ASD, characteristic facies, midline fusion abnormalities, many die by age 2 (cardiac failure or bronchopneumonia).
Key points: Assess for system dysfunction, MH risk unproven.
Reference:

Ginsburg R, Purcell-Jones G (1988). Malignant hyperthermia in the Wolf-Hirschorn syndrome. Anaesthesia, 43, 386–8.

Wolfram syndrome
Characteristics: Diabetes insipidus, diabetes mellitus, optic atrophy, deafness.
Key points: Fluid and electrolyte problems.
Wolman’s syndrome
Characteristics: Familial xanthomatosis, adrenal calcification, hepatosplenomegaly, hypersplenism.
Key points: Anaemia, thrombocytopenia, platelet transfusion may only be successful after splenectomy.
Zellweger syndrome (cerebrohepatorenal syndrome)
Characteristics: Poor suck, failure to thrive, flat/round face, micrognathia, cleft palate, polycystic kidneys, apnoeas, congenital heart defects, hypotonia, areflexia, seizures, hepatomegaly, biliary dysgenesis.

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Key points: Difficult intubation, assess CVS, care with muscle relaxants.
Reference:

Govaerts L et al. (1982). Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients. European Journal of Pediatrics, 139, 125–8.

For detailed information about rare conditions try: Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000. World Wide Web URL:http://www.ncbi.nlm.nih.gov/omim/. (Click on ‘Search the OMIM Database’ and enter the name of the condition in the search field).
Further reading
Baines D, Keneally J (1983). Anaesthetic implications of the mucopolysaccharidoses: a fifteen-year experience in a children’s hospital. Anaesthesia and Intensive Care, 11, 198–202.

Diaz JH (2000). Perioperative management of children with congenital phakomatoses. Paediatric Anaesthesia, 10, 121–8.

Katz J, Benumof JL, Kadis LB (1990). Anesthesia and uncommon diseases. WB Saunders, Philadelphia.
Rushman GB, Davies NJH, Cashman JN (ed.) (1999). Dictionary of key points about rare diseases. In: Lee’s synopsis of anaesthesia, pp. 353–81. Butterworth-Heinemann, Oxford.
Russell SH, Hirsch NP (1994). Anaesthesia and myotonia British Journal of Anaesthesia, 72, 210–16.
Smith GB, Shribman AJ (1984). Anaesthesia and severe skin disease. Anaesthesia, 39, 443–55.

Walker RWM et al. (1994). Anaesthesia and the mucopolysaccharidoses. A review of the airway problems in children. Anaesthesia, 49, 1078–88.

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