Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Kaohsiung J Med Sci. 2009 Dec;25(12):663-8. doi: 10.1016/S1607-551X(09)70572-8.
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.
我们报告了一例先天性全身性脂肪营养不良患者，该患者自童年后期开始出现癫痫发作、肌阵挛、共济失调和认知能力下降。根据皮肤活检结果诊断为拉佛拉病，结果显示特征性的拉佛拉小体。EPM2A 和 EPM2B 基因突变的基因分析结果为阴性。这是首例描述先天性全身性脂肪营养不良与拉佛拉病之间关联的病例报告。需要进一步研究这两种疾病之间的关系，并确定拉佛拉病的第三个基因座。
