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

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

Simone Gana¹, Gloria Rossetto², Jessica Garau¹, Valeria Vacchini³, Francesca Ferraro², Elisa Rognone⁴, Anna Pichiecchio^{2

4}, Serena Gasperini⁵, Enza Maria Valente^{1

6}, Simona Orcesi^{2

3}

¹ Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.
² Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
³ Department of Child Neurology and Psychiatry, IRCSS Mondino Foundation, Pavia, Italy.
⁴ Department of Neuroradiology, IRCSS Mondino Foundation, Pavia, Italy.
⁵ Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.
⁶ Department of Molecular Medicine, University of Pavia, Pavia, Italy.

No abstract available

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

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