Anatomo-clinical case of Lafora's disease
Ederli, A.; Mascioli, G.; Garelli, F.F.; Vesentini, G.
Acta Neurologica 31(3): 296-305
1976
ISSN/ISBN: 0001-6276 PMID: 189580 Document Number: 98923
A clinico-pathological observation of myoclonic epilepsy (identified as Lafora's disease) was described. A boy aged 10 yr presented GM type crises followed by myoclonus and progressive mental deterioration, until death occurred at the age of 16 yrs. Cellular inclusions referable to Lafora bodies were found at necropsy in the CNS, particularly in the basal ganglia, substantia nigra, cerebellar cortex and dentale nucleus. Heart and liver inclusions were also found. Lafora bodies are probably intra and extracellular polyglycan inclusions due to disturbed carbohydrate metabolism.