Al Mufargi Younis, Qureshi Asim, Al Asmi Abdullah
Neurology/Medicine, Sultan Qaboos University, Muscat, OMN.
Histopathology, Kings Mill Hospital, Nottingham, GBR.
Cureus. 2020 Jan 28;12(1):e6793. doi: 10.7759/cureus.6793.
Lafora disease is a rare, genetic, glycogen metabolism disorder inherited as autosomal recessive characterized by the presence of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells in the heart, liver, muscle, and skin. Lafora disease presents as a neurodegenerative disorder that causes impairment in the development of cerebral cortical neurons. We present here a case of Lafora disease that presented with progressive myoclonus epilepsy (PME) and investigated at our center. She was diagnosed to have Lafora disease with typical histological findings on skin biopsy and was found to be positive for the pathogenic mutation on genetic testing.
拉福拉病是一种罕见的遗传性糖原代谢紊乱疾病，以常染色体隐性方式遗传，其特征是在心脏、肝脏、肌肉和皮肤细胞的细胞质中存在被称为拉福拉小体的包涵体。拉福拉病表现为一种神经退行性疾病，会导致大脑皮质神经元发育受损。我们在此报告一例在本中心接受检查的拉福拉病病例，该病例表现为进行性肌阵挛癫痫（PME）。经皮肤活检发现典型组织学表现，基因检测发现致病突变呈阳性，她被诊断为拉福拉病。
