Angelman's syndrome and severe vagal hypertonia - Three paediatric case reports.

Angelman's syndrome is an association of severe mental retardation with abs ence of language, ataxia, convulsions and hyperactive, joyful behaviour wit h frequent bouts of laughing. Genetic diagnosis is possible in about 80% of cases. No cardiovascular abnormalities have been described in this syndrom e to date. The authors report the cases of three children with Angelman's syndrome who presented with severe malaise due to increased vagal tone. The age of onse t of symptoms was between 20 months and 8 years. One of the children had ma laises triggered by bouts of laughing. The diagnosis was confirmed in all t hree cases by the results of Holter 24 hour ECG recording and oculo-cardiac reflex. The treatment chosen was Diphemanil (Prantal) in the two patients under 2 years of age (after failure of a trial of betablockers in one case) and Disopyramide for the oldest child with excellent results in all cases. However, one child died suddenly at the age of 6, two years after stopping diphemanil. Based on these observations, the authors suggest that all malaises in patie nts with Angelman's syndrome should be investigated by Hotter ECG and oculo -cardiac reflex (or tilt test). In view of the potential gravity of the syn copal attacks, long-term medical treatment seems to be justified.