Lin Wen-Xin, Chai Ying-Ying, Huang Ting-Ting, Zhang Xia, Zheng Guo, Zhang Gang, Peng Fang, Huang Yan-Jun
Department of Neurology, Children's Hospital of Nanjing Medical University, Nanjing 210000, Jiangsu Province, China.
Department of Neurology, Huashan Hospital, Fudan University, Shanghai 200040, China.
World J Clin Cases. 2022 Jan 14;10(2):607-617. doi: 10.12998/wjcc.v10.i2.607.
Lissencephaly (LIS) is a malformation of cortical development with broad gyri, shallow sulci and thickened cortex characterized by developmental delays and seizures. Currently, 20 genes have been implicated in LIS. However, related LIS has never been reported. is considered one of the causative genes for bilateral frontoparietal polymicrogyria. Here, we report a twin infant with LIS and review the relevant literature. The twins both carried the novel compound heterozygous mutations.
A 5-mo-old female infant was hospitalized due to repeated convulsions for 1 d. The patient had a flat head deformity that manifested as developmental delays and a sudden onset of generalized tonic-clonic seizures at 5 mo without any causes. The electroencephalography was normal. Brain magnetic resonance imaging revealed a simple brain structure with widened and thickened gyri and shallow sulci. The white matter of the brain was significantly reduced. Patchy long T1 and T2 signals could be seen around the ventricles, which were expanded, and the extracerebral space was widened. Genetic testing confirmed that the patient carried the gene compound heterozygous mutations c.228delC (p.F76fs) and c.1820_1821delAT (p.H607fs). The unaffected father carried a heterozygous c.1820_1821delAT mutation, and the unaffected mother carried a heterozygous c.228delC mutation. The twin sister carried the same mutations as the proband. The patient was diagnosed with LIS.
This is the first case report of LIS that is likely caused by mutations of the gene.
无脑回畸形（LIS）是一种皮质发育畸形，其特征为脑回宽大、脑沟浅、皮质增厚，伴有发育迟缓及癫痫发作。目前，已有20个基因与LIS相关。然而，相关的LIS从未被报道过。被认为是双侧额顶叶多小脑回畸形的致病基因之一。在此，我们报告一例患有LIS的双胞胎婴儿并复习相关文献。这对双胞胎均携带新的复合杂合突变。
一名5个月大的女婴因反复惊厥1天入院。患儿有扁头畸形，表现为发育迟缓，5个月时无明显诱因突然出现全身性强直阵挛发作。脑电图正常。脑磁共振成像显示脑结构简单，脑回增宽增厚，脑沟浅。脑白质明显减少。在扩张的脑室周围可见斑片状长T1和T2信号，脑外间隙增宽。基因检测证实该患儿携带基因复合杂合突变c.228delC（p.F76fs）和c.1820_1821delAT（p.H607fs）。未受影响的父亲携带杂合c.1820_1821delAT突变，未受影响的母亲携带杂合c.228delC突变。双胞胎姐姐携带与先证者相同的突变。该患儿被诊断为LIS。
这是首例可能由基因突引起的LIS病例报告。
