Case Report

Pediatric Radiology

, Volume 34, Issue 2, pp 160-162

Isovaleric acidaemia: cranial CT and MRI findings

  • Ayhan SogutAffiliated withDepartment of Paediatrics, Karaelmas University
  • , Ceyda AcunAffiliated withDepartment of Paediatrics, Karaelmas University
  • , Kubilay AydinAffiliated withDepartment of Radiology, Istanbul Medical School, Istanbul University Email author 
  • , Nazan TomsacAffiliated withDepartment of Paediatrics, Karaelmas University
  • , Fatma DemirelAffiliated withDepartment of Paediatrics, Karaelmas University
  • , Cigdem AktugluAffiliated withDepartment of Paediatrics, Cerrahpasa Medical School, Istanbul University

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Abstract

Isovaleric acidaemia is an inborn error of leucine metabolism due to deficiency of isovaleryl-CoA dehydrogenase, which results in accumulation of isovaleric acid in body fluids. There are acute and chronic-intermittent forms of the disease. We present the cranial CT and MRI findings of a 19-month-old girl with the chronic-intermittent form of isovaleric acidaemia. She presented with severe metabolic acidosis, hyperglycaemia, glycosuria, ketonuria and acute encephalopathy. Cranial CT revealed bilateral hypodensity of the globi pallidi. MRI showed signal changes in the globi pallidi and corticospinal tracts of the mesencephalon, which were hypointense on T1-weighted and hyperintense on T2-weighted images.

Keywords

Brain Metabolic disorder Isovaleric acidaemia CT MRI Child