E. Tuzun et al., Longterm follow-up of electroencephalographic and clinical findings of a case with Gaucher's disease type 3a, SEIZURE-E J, 9(7), 2000, pp. 469-472
Among three recognised clinical phenotypes, type 3a Gaucher's disease is ch
aracterised by mild to severe systemic disease, neurological manifestations
and myoclonic seizures. We report the long term clinical and electrophysio
logical follow-up of a 27-year old man with a diagnosis of type 3a Gaucher'
s disease, which was confirmed by bone marrow biopsy examination and leukoc
yte glucocerebrosidase level measurement. His neurological examination was
normal throughout the follow-up period. EEG examination, recorded five days
after the first seizure, revealed generalised nonrhythmic paroxysmal rapid
spikes with occipital predominance increased by photic stimulation and nor
mal background activity. The frequency of seizures increased from 3-4/year
to 1-2/month within a follow-up period of 12 years and a repeat EEG examina
tion on the eight year of diagnosis revealed additional background slowing.
A giant potential was obtained in somatosensory evoked potential (SEP) exa
mination. EEG findings of this case demonstrate a specific pattern with rap
id spike activity, photosensitivity, eye closure sensitivity and gradual ba
ckground slowing. (C) 2000 BEA Trading Ltd.