Longterm follow-up of electroencephalographic and clinical findings of a case with Gaucher's disease type 3a

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.