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. 2023 Aug 22;10(1):23.
doi: 10.1038/s41439-023-00251-y.

Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants

Yoshihiro Taura  1 , Takenori Tozawa  2   3 , Kenichi Isoda  4 , Satori Hirai  5 , Tomohiro Chiyonobu  6 , Naoko Yano  7 , Takahiro Hayashi  7 , Takeshi Yoshida  7 , Tomoko Iehara  1
Affiliations

Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants

Yoshihiro Taura et al. Hum Genome Var. .

Abstract

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.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. MRI findings and genetic information of the patient.
A–D MRI at ten months showed bilateral symmetric signal abnormalities in the globus pallidus: axial T1-weighted (A), T2-weighted (B), fluid-attenuated inversion recovery (FLAIR) (C), and diffusion-weighted images (D). E FLAIR image at two years of age showed the disappearance of abnormal signals in the globus pallidus. F–H Sagittal T1-weighted MRI showing progressive cerebellar atrophy at one year (F), two years (G), and five years (H). I Schematic of the HIBCH gene with all reported variants labeled. Notes: Red boxes, variants identified in this study; yellow boxes, variants with cerebellar atrophy.
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