Lafora disease and congenital generalized lipodystrophy: a case report.
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.
Tseng
Chih-Fan
CF
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Ho
Che-Sheng
CS
Chiu
Nan-Chang
NC
Lin
Shuan-Pei
SP
Tzen
Chi-Yuan
CY
Wu
Yu-Hung
YH
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
D002352:Carrier Proteins; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human