Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressive cognitive retardation, peripheral neuropathy, pseudobulbar symptoms, and increased reflexes in the upper limbs. We describe the clinical, laboratory, and radiological presentation of SPG11 through a report of a case and compare with previously reported SPG11 cases in the literature. This case presents a homozygous variant in the SPG11 gene (NM_025137.4): c.1699C>T;p.(Gln567*). The diagnosis was made based on molecular findings, thinning of corpus callosum (TCC) and in most cases, periventricular white matter abnormalities are detected in brain MRI. Therefore, the clinical and radiological findings are supporting the diagnosis. However, it should not be forgotten that TCC is not peculiar to SPG11.

中文翻译：

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SPG11基因变异的11型痉挛性截瘫一例

痉挛性截瘫 11 (SPG11) 被定义为下肢进行性痉挛和虚弱，也与轻度智力障碍、儿童学习困难和/或进行性认知障碍、周围神经病变、假性延髓症状和上肢反射增加有关。我们通过病例报告描述 SPG11 的临床、实验室和放射学表现，并与文献中先前报道的 SPG11 病例进行比较。该病例呈现 SPG11 基因中的纯合变异 (NM_025137.4)：c.1699C>T;p.(Gln567*)。诊断是基于分子发现、胼胝体变薄（TCC），并且在大多数情况下，脑部 MRI 检测到脑室周围白质异常。因此，临床和放射学检查结果支持诊断。然而，