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

Yoshihiro Taura; Takenori Tozawa; Kenichi Isoda; Satori Hirai; Tomohiro Chiyonobu; Naoko Yano; Takahiro Hayashi; Takeshi Yoshida; Tomoko Iehara

doi:10.1038/s41439-023-00251-y

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

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

Authors

Yoshihiro Taura¹, Takenori Tozawa^{2

3}, Kenichi Isoda⁴, Satori Hirai⁵, Tomohiro Chiyonobu⁶, Naoko Yano⁷, Takahiro Hayashi⁷, Takeshi Yoshida⁷, Tomoko Iehara¹

Affiliations

¹ Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
² Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. [email protected].
³ Department of Pediatrics, Ayabe City Hospital, Kyoto, Japan. [email protected].
⁴ Department of Pediatrics, Matsushita Memorial Hospital, Osaka, Japan.
⁵ Department of Pediatric Neurology, Bobath Memorial Hospital, Osaka, Japan.
⁶ Department of Molecular Diagnostics and Therapeutics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
⁷ Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.

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.