Abstract
A case of juvenile Gaucher disease is reported. The patient, a female, was noticed to have hepatosplenomegaly at the age of 1 year, and was splenectomized at the age of 4. At 5 years of age, she suffered generalized convulsion and showed pyramidal tract signs, cerebellar ataxia, congenital oculo-motor apraxia, atypical absence attacks and myoclonus. Ictal EEG during atypical absence comprised 3.5-4-Hz generalized spike-wave complexes. Her signs and symptoms were compatible with lipidosis-type progressive myoclonus epilepsy together with other characteristics, as revealed by photoconvulsive responses and high-voltage somatosensory evoked potentials. Her myoclonus was exaggerated by intention and action, and was considered to have features of cortical reflex myoclonus.
