Orooj Fizza, Zhao XiaoChu, Ahmad Arsalan, Ahmed Imran Nazir, Faheem Muhammad, Hassan Muhammad Jawad, Minasian Berge A
Division of Neurology, Shifa International Hospital, Shifa Tameer-e-Millat University, Islamabad, Pakistan.
Department of Biochemistry, Hazara University, Mansehra, KPK, Pakistan.
Neurol Asia. 2021 Jun;26(2):427-433.
Lafora body disease (MIM-254780), a glycogen storage disease, characterized by Lafora bodies (deformed glycogen molecules) accumulating in multiple organs, is a rare form of myoclonic epilepsy. It manifests in early adolescent years, initially with seizures and myoclonus, followed by dementia and progressive cognitive decline, ultimately culminating in death within 10 years. In Pakistan so far 5 cases have been reported. Here, we report a new case of Lafora body disease belonging to a consanguineous family from Pakistan. Histopathological analysis confirmed presence of lafora bodies in the patient`s skin. Sanger sequencing revealed novel homozygous 5bp deletion mutation (NM_005670.4; c.359_363delGTGTG) in exon 2 of the gene, which was truly segregated in the family. These results will increase our understanding regarding the aetiology of this disorder and will further add to the mutation spectrum of gene.
拉福拉体病（MIM-254780）是一种糖原贮积病，其特征是拉福拉体（变形的糖原分子）在多个器官中积聚，是肌阵挛性癫痫的一种罕见形式。它在青少年早期出现，最初表现为癫痫发作和肌阵挛，随后出现痴呆和进行性认知衰退，最终在10年内死亡。到目前为止，巴基斯坦已报告了5例病例。在此，我们报告一例来自巴基斯坦一个近亲家庭的拉福拉体病新病例。组织病理学分析证实患者皮肤中存在拉福拉体。桑格测序显示该基因第2外显子有新的纯合5bp缺失突变（NM_005670.4；c.359_363delGTGTG），该突变在家族中真实分离。这些结果将增加我们对这种疾病病因的理解，并进一步丰富该基因的突变谱。
