Abstracts

Objective: The participants should be aware of the possibility of a relationship between Riley-Day Syndrome and Epilepsy and exclude seizures in similar patients with autonomic dysfunction.
Familial Dysautonomia (FD) is a rare autosomal recessively inherited disorder affecting nervous system development principally autonomic and sensory neurones. The disorder affects mainly Ashkenazi Jews and to my knowledge, it has never been reported to be associated with seizures.
It usually presents in infancy, with failure to thrive due to swallowing difficulties, aspiration and diarrhea. Recurrent pneumonias are frequent, with a high incidence of scoliosis. Mortality is high during the early years of life. The dysautonomic crisis, commonly induced by stress, does not become a prominent feature until after three years of age. These crises, of severe vomiting and retching, occur with varying severity and frequency and they may involve impairment of consciuosness. They are associated with hypertension, tachycardia, sweating, erythematous blotching of the skin, gastric distension and irritability. Peripheral pain sensation is diminished, but visceral and peritoneal pain sensation is intact. Diagnosis is usually confirmed by absence of flare response to intradermal histamine.
Although it involves neurologic dysfunction, those patients are not typically managed by neurologists and seizures may be overlooked.
METHODS: I am reporting a family of three kids, two of them are monozigotic twins, with genetic confirmation of familial dysautonomia and atypical absence epilepsy. The seizures were analized using videoelectroencephalography. The history, physical exam and diagnostic work up is analized as well as the EEG findings.
RESULTS: All three patients had history of slow development. The monozigotic twins have atypical absence seizures associated with identical electrographic features characterized by central rhythmic high voltage theta preceding generalized irregular 3 Hertz spike and wave discharges lasting several seconds and frequently followed by diffuse central high voltage theta. The older sibling has history of similar clinical and electrographic seizure pattern, now having only frequent brief generalized discharges associated with subtle behavior changes. One of the twins and the older brother have history of febrile seizures. Initially the seizures were triggered by breath holding and occurred between 19 months and 4 1/2 years of age. The seizures were characterized by sinking slowly to the floor and not losing consciousness. Now after treatment, the seizures are characterized by brief staring with upward gaze and blinking lasting 1 to 2 seconds.They are currently treated with topiramate and ethosuximide, which has improved the seizure frequency without side effects. They had typical clinical signs of familial dysautonomia and tested positive for the intradermal histamine test.
CONCLUSIONS: The presence of similar seizures and febrile convulsions in this family suggest a possible genetic association between Familial Dysautonomia and Epilepsy.
Autonomic crisis may mask the presence of absence seizure, therefore I suggest screening those patients with electroencephalogram and neurological consult. Video/EEG is useful to correlate subtle behavior with EEG abnormalities.