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Familial Kufs' disease presenting as a progressive myoclonic epilepsy
B Sadzot1, M Reznik, J E Arrese-Estrada
1Department of Neurology, University Hospital Centre (CHU), Liège-Sart Tilman, Belgium. bsadzot@chu.ulg.ac.be
Abstract:
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.
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