Open AccessLafora Disease and Congenital Generalized Lipodystrophy: A Case Report
Author(s) -
Tseng ChihFan,
Ho CheSheng,
Chiu NanChang,
Lin ShuanPei,
Tzen ChiYuan,
Wu YuHung
Publication year - 2009
Publication title -
the kaohsiung journal of medical sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.439
H-Index - 36
eISSN - 2410-8650
pISSN - 1607-551X
DOI - 10.1016/s1607-551x(09)70572-8
Subject(s) - lafora disease , medicine , pathognomonic , myoclonus , lipodystrophy , ataxia , skin biopsy , dermatology , disease , pediatrics , biopsy , pathology , genetics , psychiatry , immunology , phosphorylation , human immunodeficiency virus (hiv) , antiretroviral therapy , viral load , phosphatase , biology
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.