title: Lafora disease and congenital generalized lipodystrophy: a case report.
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.
authors: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors: Chih-Fan
authors: CF
authors: Tseng
authors: Che-Sheng
authors: CS
authors: Ho
authors: Nan-Chang
authors: NC
authors: Chiu
authors: Shuan-Pei
authors: SP
authors: Lin
authors: Chi-Yuan
authors: CY
authors: Tzen
authors: Yu-Hung
authors: YH
authors: Wu
mesh_terms: D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D006801:Humans; D020192:Lafora Disease / Q000150:complications* / Q000235:genetics; D008060:Lipodystrophy / Q000150:complications / Q000151:congenital* / Q000235:genetics; D008297:Male; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics; D044767:Ubiquitin-Protein Ligases
chemical_list: D002352:Carrier Proteins; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human