Pathogenic variants in the HIBCH gene cause HIBCH deficiency, leading to mitochondrial disorders associated with valine metabolism. Patients typically present with symptoms such as developmental regression/delay, encephalopathy, hypotonia and dystonia. Brain magnetic resonance imaging (MRI) shows bilateral lesions in the basal ganglia with/without brainstem involvement. Here, we report a case of a Japanese patient with Leigh-like syndrome caused by novel HIBCH variants. Long-term follow-up MRI revealed progressive cerebellar atrophy, which expands the phenotypic spectrum of HIBCH deficiency.

中文翻译：

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新型 HIBCH 变异引起的 Leigh 样综合征伴进行性小脑萎缩

HIBCH基因的致病性变异会导致 HIBCH 缺乏，从而导致与缬氨酸代谢相关的线粒体疾病。患者通常会出现发育退化/延迟、脑病、肌张力低下和肌张力障碍等症状。脑磁共振成像（MRI）显示基底节双侧病变，有/无脑干受累。在此，我们报告一例由新的HIBCH变异引起的 Leigh 样综合征的日本患者。长期随访 MRI 显示进行性小脑萎缩，这扩大了 HIBCH 缺陷的表型谱。