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

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 bi...

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Autores principales: Taura, Yoshihiro, Tozawa, Takenori, Isoda, Kenichi, Hirai, Satori, Chiyonobu, Tomohiro, Yano, Naoko, Hayashi, Takahiro, Yoshida, Takeshi, Iehara, Tomoko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10442384/
https://www.ncbi.nlm.nih.gov/pubmed/37604814
http://dx.doi.org/10.1038/s41439-023-00251-y
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author Taura, Yoshihiro
Tozawa, Takenori
Isoda, Kenichi
Hirai, Satori
Chiyonobu, Tomohiro
Yano, Naoko
Hayashi, Takahiro
Yoshida, Takeshi
Iehara, Tomoko
author_facet Taura, Yoshihiro
Tozawa, Takenori
Isoda, Kenichi
Hirai, Satori
Chiyonobu, Tomohiro
Yano, Naoko
Hayashi, Takahiro
Yoshida, Takeshi
Iehara, Tomoko
author_sort Taura, Yoshihiro
collection PubMed
description 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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spelling pubmed-104423842023-08-23 Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants Taura, Yoshihiro Tozawa, Takenori Isoda, Kenichi Hirai, Satori Chiyonobu, Tomohiro Yano, Naoko Hayashi, Takahiro Yoshida, Takeshi Iehara, Tomoko Hum Genome Var Data Report 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. Nature Publishing Group UK 2023-08-22 /pmc/articles/PMC10442384/ /pubmed/37604814 http://dx.doi.org/10.1038/s41439-023-00251-y Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Taura, Yoshihiro
Tozawa, Takenori
Isoda, Kenichi
Hirai, Satori
Chiyonobu, Tomohiro
Yano, Naoko
Hayashi, Takahiro
Yoshida, Takeshi
Iehara, Tomoko
Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants
title Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants
title_full Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants
title_fullStr Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants
title_full_unstemmed Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants
title_short Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants
title_sort leigh-like syndrome with progressive cerebellar atrophy caused by novel hibch variants
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10442384/
https://www.ncbi.nlm.nih.gov/pubmed/37604814
http://dx.doi.org/10.1038/s41439-023-00251-y
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