Familial Kufs' disease presenting as a progressive myoclonic epilepsy.
Kufs' disease is the adult form of a group of disorders referred to as neuronal ceroid-lipofuscinosis or Batten's disease. We report here the clinical and anatomopathological features of two young brothers presenting with a progressive myoclonic epilepsy corresponding to type A of the disease according to Berkovic. The first clinical manifestations occurred before 20 years of age. Diagnosis was made in the older brother at autopsy and in the younger brother from a rectal biopsy. In addition to characteristic electron microscopic findings, enlarged neurons showed strong immunoreactivity against subunit c of mitochondrial ATP synthase which has been reported previously in only a few adult cases of neuronal ceroid-lipofuscinosis. An extensive review of the published cases underlines the rarity of this condition, particularly when onset is early.
Department of Neurology, University Hospital Centre (CHU), Liège-Sart Tilman, Belgium. bsadzot@chu.ulg.ac.be
B
B
Sadzot
M
M
Reznik
J E
JE
Arrese-Estrada
G
G
Franck
D000328:Adult; D017668:Age of Onset; D001921:Brain / Q000473:pathology / Q000503:physiopathology / Q000648:ultrastructure; D003937:Diagnosis, Differential; D018450:Disease Progression; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D009474:Neurons / Q000473:pathology / Q000648:ultrastructure; D016896:Treatment Outcome