MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency

3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare mitochondrial disorder of valine metabolism which may present with motor delay, hypotonia, ataxia, dystonia, seizures poor feeding, and organic aciduria. Neuroimaging findings include signal abnormalities of the deep gray matter, particularly the globus pallidi, and cerebral peduncles. We report a 15-month-old male patient with HIBCH deficiency who presented with paroxysmal tonic upgaze of infancy, motor delay, and hypotonia. MRI revealed characteristic bilateral, symmetric signal abnormalities in the basal ganglia and a mutation in HIBCH was confirmed with whole exome sequencing. HIBCH should be a consideration in patients with Leigh-like features, especially if neuroimaging changes primarily affect the globus pallidi. Recognition of this pattern may help guide targeted testing and expedite the diagnosis and treatment of this rare disease.