Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Department of Dermatology, Mayo Clinic, Rochester, Minnesota, USA.
J Cutan Pathol. 2022 Oct;49(10):885-888. doi: 10.1111/cup.14275. Epub 2022 Jul 6.
Lafora disease is a rare inherited neurodegenerative disease with onset in adolescence. Patients present with progressive myoclonic seizures and cognitive decline. The disease is linked to mutations in either of the two genes encoding malin and laforin, and it is associated with the accumulation of polyglucosan inclusions (Lafora bodies [LBs]) in various tissues, such as brain, liver, muscle, and skin, with the skin being particularly accessible for biopsy. Histopathologic examination of affected tissue with demonstration of LBs, together with the presence of pathologic mutation in EPM2A or NHLRC1 genes, is sufficient for diagnosis of this neurologic disorder when clinically suspected. Here, we report the case of a 16-year-old female with progressive neurologic symptoms and homozygous mutation in the NHLRC1 gene encoding malin. The skin biopsy was instrumental in reaching the final diagnosis by showing LBs in sweat glands by histopathologic and electron microscopic examination.
拉佛拉病是一种罕见的遗传性神经退行性疾病，发病于青春期。患者表现为进行性肌阵挛性癫痫发作和认知能力下降。该疾病与编码马拉和拉佛林的两个基因中的任何一个突变有关，并且与多聚糖醇包涵体（拉佛拉体[LBs]）在各种组织中的积累有关，例如脑、肝、肌肉和皮肤，皮肤特别适合进行活检。当临床怀疑时，受累组织的组织病理学检查显示 LBs，以及 EPM2A 或 NHLRC1 基因的病理性突变的存在，足以诊断这种神经障碍。在这里，我们报告了一例 16 岁女性，其具有进行性神经症状和 NHLRC1 基因（编码马拉）的纯合突变。皮肤活检通过组织病理学和电子显微镜检查显示在汗腺中存在 LBs，这对于做出最终诊断非常重要。
