Chinese PLA Medical School, Beijing, China.
Department of Neurology, The First Medical Center, Chinese PLA General Hospital, Beijing, China.
Neurocase. 2022 Jun;28(3):314-319. doi: 10.1080/13554794.2022.2083518. Epub 2022 Jun 2.
To analyze the clinical, imaging, and genetic characteristics of a patient diagnosed with adult-onset Krabbe disease (KD). Clinical and imaging features of the patient were retrospectively reviewed. The patient, a 40-year-old female, presented adult-onset spastic paraplegia. Brain magnetic resonance imaging (MRI) showed white matter hyperintensities along bilateral optic radiations. Colorimetry of galactocerebrosidase enzyme activity showed low enzyme levels. A heterozygous missense mutation: c.1658G>A (p.G553E) and c.1901T>C (p.L634S) was identified in the gene by whole exome sequencing, and was verified by Sanger sequencing. KD should be considered when patients presented adult-onset spastic paraplegia with classical MRI imaging features. Mutation c.1658G>A (p.G553E) was novel in gene and broaden the mutation spectrum.
分析一位被诊断为成人发病型 Krabbe 病（KD）患者的临床、影像和遗传特征。回顾性分析患者的临床和影像特征。患者为 40 岁女性，表现为成人发病痉挛性截瘫。脑部磁共振成像（MRI）显示双侧视辐射区的白质高信号。半乳糖脑苷脂酶活性的比色法显示酶水平低。全外显子组测序发现基因中存在杂合错义突变：c.1658G>A(p.G553E)和 c.1901T>C(p.L634S)，并通过 Sanger 测序进行了验证。当患者出现具有典型 MRI 影像特征的成人发病痉挛性截瘫时，应考虑 KD。基因中的突变 c.1658G>A(p.G553E)是新的，拓宽了突变谱。
