Biopsy results in a kindred with Lafora disease
I. Drury, M. Blaivas, B. W. Abou-Khalil and A. Beydoun
Department of Neurology, University of Michigan, Ann Arbor.
We studied biopsy results in a kindred with the Lafora form of progressive
myoclonic epilepsy. Four members of a family with known consanguinity
presented as teenagers with seizures, myoclonus, dementia, and ataxia.
After the diagnosis was established by brain biopsy in the first patient,
many efforts were made to obtain a tissue diagnosis in the three other
patients. Lafora bodies were absent in most of the skin biopsy specimens in
three patients and in liver biopsy specimens from two patients. In cases of
Lafora disease, where a reasonably certain clinical diagnosis can be
established, supported by biopsy proof in some family members, repeated
biopsy specimens even at advanced stages of the disease may be negative.
These findings suggest that negative skin or liver biopsy specimens in
patients with progressive myoclonic epilepsy should not exclude the
diagnosis of Lafora disease.
