Anaesthesia for a Patient Suffering From Familial Dysautonomia (Riley-Day Syndrome)

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 catalogue 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. Name Adrenogenital syndrome SYnvno~EsDescription Inability to synthesize hydrocortisone. Virilization of female Anaesthetic Implications All need hydrocortisone even if not saltlosing. Check electrolytes ( 1 ) Albers-SchtJnberg disease (marble bone disease or osteopetrosis) Brittle bones, pathological fractures Albright-Butler Renal tubular acidosis syndrome hypokalaemia. Renal calculi Albright's osteodystrophy (pseudohypoparathyroidism ) Alport syndrome Ectopic bone formation. Mental retardation Nephritis and nerve deafness. Renal pathology variable Anaemia from marrow sclerosis. Hepa-tos~lenomegaly. Care in positioning and restraint ( 2 ) Correct electrolytes to within normal Limits. Renal impairment (3) Hypocalcaemia -possible ECG conduction defects, neuromuscular problems. Convulsions (4) Renal failure in 2nd--Srd decade. Care with renally excreted drugs (6) Alstr6m syndrome Obesity, blindness by seven years. Hearing loss. Diabetes after puberity -glomerulosclerosis Amyotonia congenita Anterior horn cell ( infantile muscular degeneration atrophy ) Renal impairment. Management of diabetes and obesity Sensitive to thiopentone ( reduced muscle mass ) and respiratory depressants. Care with muscle relaxants (7-10)

show abstract