The clinical characteristics of epilepsy and optimal antiepileptic drug therapy were surveyed in 60 patients (mean age 16 years, range 5-33) with juvenile neuronal ceroid lipofuscinosis (JNCL), followed at the University of Helsinki, Finland.
The clinical characteristics of epilepsy and optimal antiepileptic drug therapy were surveyed in 60 patients (mean age 16 years, range 5-33) with juvenile neuronal ceroid lipofuscinosis (JNCL), followed at the University of Helsinki, Finland. Epilepsy, mainly generalized, was diagnosed in 50, and the first seizure occurred at a mean age of 10 years (range 5-16). Median seizure frequency was 4 per year, and seizure control was satisfactory in 72%. Lamotrigine as first choice and valproate were equally effective in seizure control, and carbamazepine was useful as add-on therapy. [
COMMENT. JNCL is now regarded as a lysosomal disorder, characterized by an intralysomal accumulation of storage material, subunit c of mitochondrial adenosine triphosphate (ATP) synthetase. The disease is recessively inherited, with the gene locus mapping to chromosome 16, and with several different mutations. Onset is with visual failure due to retinal degeneration, noted between the ages of 5 and 8 years. This is followed by epilepsy, psychomotor deterioration, sleep disturbance, and extrapyramidal symptoms. Affected females have acne, hirsutism, and obesity. Death follows in the early twenties.