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

The article discusses a case study of a child with HIBCH deficiency, a rare disorder affecting valine catabolism. The child exhibited atypical symptoms, including delayed motor development and mild ataxia, with unexpected brain imaging findings. Genetic testing revealed novel variants in the HIBCH gene, leading to a unique form of "relapsing-remitting" ataxia triggered by febrile infections. The study highlights the importance of considering HIBCH deficiency in patients with diverse presentations and emphasizes the need for early recognition and intervention for this potentially treatable disease. [Extracted from the article]