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Biopsy Results in a Kindred With Lafora Disease
Ivo Drury, MB BCh;
Mila Blaivas, MD, PhD;
Bassel W. Abou-Khalil, MD;
Ahmad Beydoun, MD
Arch Neurol. 1993;50(1):102-105.
Abstract
• 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.
Author Affiliations
From the Departments of Neurology (Drs Drury and Beydoun) and Pathology (Dr Blaivas), University of Michigan, Ann Arbor; and the Department of Neurology, Vanderbilt University, Nashville, Tenn (Dr Abou-Khalil).
Footnotes
Accepted for publication June 25, 1992.
Presented in part at the 1989 annual meeting of the American Epilepsy Society, Boston, Mass, December 4, 1989.
Reprint requests to EEG Laboratory, University of Michigan Medical Center, 1500 E Medical Center Dr, Ann Arbor, Ml 48109-0036 (Dr Drury).
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