Department of Medicine, Division of Neurology, University of Alberta, Edmonton, Canada.
Department of Neurology, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
J Coll Physicians Surg Pak. 2022 Aug;32(8):S133-S135. doi: 10.29271/jcpsp.2022.Supp2.S133.
Lafora body disease (LBD) is a progressive myoclonic genetic epilepsy syndrome characterized by the presence of Lafora inclusion bodies within neurons and other cells. It is a complex neurodegenerative disease presenting in adolescence with seizures, myoclonus, and rapid cognitive decline. Diagnosis is often challenging requiring a thorough history including family history, identification of Lafora bodies in apocrine sweat glands of axillary skin, and specific DNA sequencing. There is no cure and management is mainly supportive. We present one of the only few cases from Pakistan of LBD based on characteristic biopsy findings, history of similar ailment in siblings, and EPM2B mutation. This case emphasizes the need for physicians and neurologists to be aware of diagnostic challenges associated with LBD and its characteristic findings. Key Words: Lafora body, Progressive epilepsy, Myoclonus, Axillary skin biopsy, EPM2B.
拉佛拉病（LBD）是一种进行性肌阵挛遗传性癫痫综合征，其特征是神经元和其他细胞内存在拉佛拉包涵体。它是一种复杂的神经退行性疾病，在青少年期表现为癫痫发作、肌阵挛和快速认知能力下降。诊断通常具有挑战性，需要详细的病史，包括家族史、腋部皮肤顶泌汗腺中拉佛拉体的识别，以及特定的 DNA 测序。目前尚无治愈方法，治疗主要是支持性的。我们报告了来自巴基斯坦的唯一几例 LBD 病例之一，基于特征性的活检发现、兄弟姐妹中类似疾病的病史和 EPM2B 突变。该病例强调了医生和神经科医生需要意识到与 LBD 及其特征性发现相关的诊断挑战。关键词：拉佛拉体、进行性癫痫、肌阵挛、腋部皮肤活检、EPM2B。
