Isovaleric acidemia: A rare cause of isolated cerebellar atrophy

Abstract

Isovaleric acidemia is a very rare autosomal recessive inborn error of leucine metabolism caused by deficiency of the mitochondrial enzyme isovaleryl-coenzyme A dehydrogenase. The disease has two well-known clinical phenotypes: an acute neonatal presentation with severe metabolic crisis and a chronic intermittent form. There are only two reported cases of the neuroimaging findings of this disorder, both imaged during an acute metabolic decompensation, with documented abnormalities of the basal ganglia. We report a previously undescribed neuroimaging finding of isolated cerebellar atrophy with normal basal ganglia in a 6-year-old female with chronic intermittent isovaleric acidemia, imaged for evaluation of developmental delay, outside an episode of a metabolic crisis. *Correspondence to: Nicolas-Jilwan M, Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia, Tel: 9613940781; E-mail: manaljilwan@hotmail.com