AN INDEX OF SYNDROMES AND THEIR ANAESTHETIC IMPLICATIONS ANNE E.P. JONES AND D.A. PELTON PATIENTS often present for anaesthesia and surgery having been "labelled" with a diagnosis of some eponymous or rare syndrome. This index is an attempt to cata- logue as many syndromes as possible which have anaesthetic implications and to give an indication of their main features. It is hoped that it will be useful as a ready reference especially for those involved in paediatric anaesthesia, as many of these patients present in infancy or childhood. The information is presented in tabular form with a cross index of alternative names. Where possible anaesthetic references are given. Where no anaesthetic references exist those given refer to descriptive literature. SYnvno~Es Name Description Anaesthetic Implications Adrenogenital syndrome Inability to synthesize All need hydrocortisone even if not salt- hydrocortisone. Viriliza- losing. Check electrolytes ( 1 ) tion of female Albers-SchtJnberg Brittle bones, pathologi- Anaemia from marrow sclerosis. Hepa- disease (marble bone cal fractures tos~lenomegaly. Care in positioning disease or osteopetrosis) and restraint ( 2 ) Albright-Butler Renal tubular acidosis Correct electrolytes to within normal syndrome hypokalaemia. Renal Limits. Renal impairment (3) calculi Albright's osteo- Ectopic bone formation. Hypocalcaemia - possible ECG conduc- dystrophy (pseudo- Mental retardation tion defects, neuromuscular problems. hypoparathyroidism ) Convulsions (4) Alport syndrome Nephritis and nerve deaf- Renal failure in 2nd--Srd decade. Care ness. Renal pathology with renally excreted drugs (6) variable Alstr6m syndrome Obesity, blindness by Renal impairment. Management of seven years. Hearing loss. diabetes and obesity Diabetes after puberity - glomerulosclerosis Amyotonia congenita Anterior horn cell Sensitive to thiopentone ( reduced ( infantile muscular degeneration muscle mass ) and respiratory depress- atrophy ) ants. Care with muscle relaxants (7-10) Anne E.P. Jones, M.B., B.S., F.F.A.R.C.S. (Fellow), D.A. Pelton, M.D., F.R.C.P. (C) (Senior Anaesthetist) Department of Anaesthesia, The Hospital for Sick Children, Toronto and The University of Toronto. Our grateful thanks are due to Miss Sheree Coates for her secretarial assistance. 207 Canad. Anaesth. See. J., vol. 23, no. 2, March 1976 208 CANADIAN ANAESTHETISTS'SOCIETY JOURNAL Name Description Anaesthetic Implications Amyotropic lateral Degeneration of motor Avoid succinylcholine. Possible K + sclerosis neurones release and cardiac arrest. Minimal thiopentone and curare. Avoid respira- tory depressants ( 11 ) Analbuminaemia Almost absent albumin Very sensitive to protein bound drugs 4-100 mg~; including thiopentone, coumarin anti- coagulants, curare Andersen's disease Debrancher enzyme Possibility of hypoglycaemia under ( Glycogen storage deficiency anaesthesia disease IV) Aperts syndrome (acro- Craniosynostosis Difiqcult intubation. Possibly raised cephalosyndactyly) intracranial pressure, associated con- genital heart disease ( 13 ) hrthrogryposis Multiple congenital Ten per cent have congenital heart multiplex contractures disease. Minimal thiopentone required - muscles replaced by fat. Possible air- way problem with mandible (14) Asplenia syndrome Absent spleen, bilateral Very complex cardiovascular anomalies, visceral right sidedness present with cyanosis and heart failure (15) Ataxia-telangiectasia Cerebellar ataxia. Skin Defective immunity - recurrent chest and conjunctival telan- and sinus infections. Bronchiectasis giectasia. Decreased (16) serum IgA and IgE. 10 per cent develop reticule- endothelial malignancy Beckwith syndrome Birth weight > 4,000 gm Persistent severe neonatal hypoglycae- (infantile gigantism ) macroglossia and mia. Airway problems ( 17, 18 ) exomphalos Blackfan-Diamond Congenital idiopathic Liver and spleen enlarged. Hypersplen- syndrome red cell aplasia ism thrombocytopenia. Steroid therapy required ( 19 ) Bowen's syndrome Hepatomegaly and neo- Hypoprothrombinaemia. Care with ( eerebrohepatorenal natal jaundice. Polycystic renally excreted drugs and muscle syndrome) kidneys. Associated con- relaxants (20) genital heart disease. Muscular hypotonia Carpenter's syndrome Cranial synostosis. Hypoplastic mandible. Possibly difficult Associated congenital intubation (13) heart disease Central core disease Muscular dystrophy See amyotonia congenita (7-10) Chediak-Higashi Partial albinism Steroid tberapy. Recurrent chest infec- syndrome immunodeficiency tion. Thrombocytopenia - may require hepatosplenomegaly platelets ( 21 ) ~IONES & PELTON: INDEX OF SYNDROMES 209 Name Description Anaesthetic Implications Cherubism Tumourous lesion of Intubation may be extremely difficult. mandibles and maxillae May require tracheostomy for acute with intraoral masses. respiratory distress. Profuse bleeding at May cause respiratory surgery ( 22 ) distress Chotzen syndrome Craniosynostosis May be difficult intubation. Associated renal anomalies and possible impaired renal excretion of drugs (13) Christ-Siemens Absent sweating - heat Cannot control temperature by sweat- Touraine syndrome intolerance ing. Persistent upper respiratory and ( anhidrotic ectodermal chest infection due to poor mucus for- dysplasia) mation (23) Chronic granulomatous Inherited disorder of Hepatomegaly in 95 per cent. Poor pul- disease leucocyte function. monary function. Avoid infection-strict Recurrent infections with asepsis ( '24 ) non-pathogenic organisms Collagen diseases: Systemic connective Often have pulmonary infiltration or dermatomyositis, diseases frequently fibrosis. May have temporomandibular rheumatoid arthritis, treated with steroids. or cricoarytenoid arthritis causing air- systemic lupus Osteoporosis and fatty way and intubation difficuhies. Anae- erythematosus, infiltration of muscle. mia common. Risk of fat embolism after polyarteritis nodosa Variable systemic osteotomy, fracture or minor trauma involvement (5, 86, 87) Conradfs syndrome Chondrodystrophy wifla Problems are those of associated renal contractures, saddle nose, and cardiac disease (25) mental retardation. As- sociated congenital heart disease and renal anomalies Cretinism Absent thyroid tissue or Airway problems - large tongue, goitre. ( congenital defective synthesis Respiratory centre very sensitive to de- hypothyroidism ) thyroxine and goitre pression. CO 2 retention common. Hypo- glycaemia, hyponatraemia, hypoten- sion. Low cardiac output. Transfusion poorly tolerated ( 26 ) Cri-Du-Chat syndrome Chromosome 5-P abnor- Airway problems - stridor, laryngoma- mal. Abnormal cry, lacia. Possibly difficult intubation (27) microcephaly microgna- thia. Congenital heart disease C,'ouzon disease Craniosynostosis Possibly difficult intubation. Severe blood loss with cranial operation (13) Cutis laxa Elastic fibre degeneration Pulmonary infection, emphysenaa and pendulous skin, frequent corpulmona]e. Poor tissues - I.V. dif- hernias. Emphysema and ficult to maintain. Excess of soft tissues cor-pulnaonale. Arterial around larynx may lead to respiratory fragility obstruction ( 28, 29) 210 CANADIAN ANAESTHETISTS'SOCIETY JOURNAL Name Description Anaesthetic Implications Di George's syndrome Absent thymus and para- Recurrent chest infections. Hypopara- ( 3rd & 4th Arch thyroids. Immune de- thyroidism. Low Ca + + and tetany. syndrome ) ficiency. Susceptibility to Stridor. Aortic arch abnormalities and fungal and viral infec- reduced cardiac output. Donor blood tions. Treated by foetal must be irradiated with 3000 rads to thynfie transplants prevent graft-versus-host reaction (30) Down's syndrome Microcephaly. Small Difficult airway - large tongue, small ( mongolism ) nasopharynx. Hyptonia. mouth. Risk of laryngeal spasm especi- Sixty per cent have con- ally on extubation. Problems of cardiac genital heart disease. anomalies (31, 27 ) Duodenal atresia in some. Cervical spine abnor- malities Duchenne muscular Muscular dystrophy with As for Amyotonia congenitaplus cardiac dystrophy frequent cardiac muscle involvement. Minimal drug dosage. involvement. Usually die Avoid respiratory depressants, muscle in 2nd decade relaxants. Post-operative I.P.P.V. may be required (7-10) Edward's syndrome Congenital heart disease Possible difficult intubation. Care with (Trisomy 18(E)) in 95 per cent. Microgna- renally excreted drugs (27) thia in 80 per cent. Renal malformations 50-80 per cent. Usually die in infancy Ehlers-Danlos Collagen abnormality CVS - spontaneous rupture of vessels. syndrome with hyperelasticity and Angiogram 1 per cent mortality. ECG fragile tissues. Dissecting conduction abnormalities. I.V. difficult aneurysm of aorta. to maintain - haematoma. Poor tissues Fragility of other blood and clotting defect lead to haemorrhage vessels. Bleeding dia- especially G.I. tract. Spontaneous thesis ? cause pneumothorax ( 28, 29 ) Ellis-Van-Creveld Ectodermal defects, Chest wall anomalies lead to poor lung syndrome skeletal anomalies. 50 function. May have abnormal maxilla ( Chondroectodermal per cent have congenital and upper lip, hepatosplenomegaly dysplasia ) heart disease, usually (32) septal Epidermolysis Erosions and blisters Airway - oral lesions, adhesion of bullosa from minor skin trauma tongue. Ketamine is recommended or use small oral tube to avoid laryngeal trauma. Avoid skin tramna from tapes. History of steroid therapy. Check for porphyria. ( Similar skin lesions) (33) Fabry's disease Lipid storage disease CVS - hypertension, myocardial ischae- mia ( before 3rd or 4th decade ). Renal failure