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Case Reports
. 2009 Dec;25(12):663-8.
doi: 10.1016/S1607-551X(09)70572-8.

Lafora disease and congenital generalized lipodystrophy: a case report

Chih-Fan Tseng  1 , Che-Sheng Ho, Nan-Chang Chiu, Shuan-Pei Lin, Chi-Yuan Tzen, Yu-Hung Wu
Affiliations
Case Reports

Lafora disease and congenital generalized lipodystrophy: a case report

Chih-Fan Tseng et al. Kaohsiung J Med Sci. 2009 Dec.

Abstract

We report a patient with congenital generalized lipodystrophy who had suffered from seizures, myoclonus, ataxia and cognitive decline since late childhood. Lafora disease was diagnosed based on skin biopsy results, which revealed pathognomonic Lafora bodies. The results of genetic analysis for mutations in EPM2A and EPM2B genes were negative. This is the first case report describing an association between congenital generalized lipodystrophy and Lafora disease. Further studies focusing on the relationship between these two diseases and the identification of a third locus for Lafora disease are needed.

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