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. 2024 Nov;11(11):1454-1457.
doi: 10.1002/mdc3.14190. Epub 2024 Aug 14.

"Relapsing-Remitting" Ataxia and Unexpected Brain Imaging in a Child with HIBCH Deficiency

Simone Gana  1 , Gloria Rossetto  2 , Jessica Garau  1 , Valeria Vacchini  3 , Francesca Ferraro  2 , Elisa Rognone  4 , Anna Pichiecchio  2   4 , Serena Gasperini  5 , Enza Maria Valente  1   6 , Simona Orcesi  2   3
Affiliations

"Relapsing-Remitting" Ataxia and Unexpected Brain Imaging in a Child with HIBCH Deficiency

Simone Gana et al. Mov Disord Clin Pract. 2024 Nov.
No abstract available

Keywords: HIBCH deficiency; Leigh‐like syndrome; ataxia; brain MRI; whole exome sequencing.

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Figures

Figure 1
Figure 1
Brain MRI at 2.4 years of age shows mild atrophy of the superior cerebellar vermis (A), while the cerebellar hemispheres, white matter, mesencephalon and basal ganglia are normal (B–E). Follow‐up brain MRI at 3.4 years reveals progression of the cerebellar atrophy to involve the hemispheres (F, G), while the white matter, mesencephalon and basal ganglia are still normal (H–J).
See this image and copyright information in PMC

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