Pediatric Radiology

, Volume 34, Issue 2, pp 160–162

Isovaleric acidaemia: cranial CT and MRI findings


  • Ayhan Sogut
    • Department of PaediatricsKaraelmas University
  • Ceyda Acun
    • Department of PaediatricsKaraelmas University
    • Department of Radiology, Istanbul Medical SchoolIstanbul University
  • Nazan Tomsac
    • Department of PaediatricsKaraelmas University
  • Fatma Demirel
    • Department of PaediatricsKaraelmas University
  • Cigdem Aktuglu
    • Department of Paediatrics, Cerrahpasa Medical SchoolIstanbul University
Case Report

DOI: 10.1007/s00247-003-1049-8

Cite this article as:
Sogut, A., Acun, C., Aydin, K. et al. Pediatr Radiol (2004) 34: 160. doi:10.1007/s00247-003-1049-8


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.


BrainMetabolic disorderIsovaleric acidaemiaCTMRIChild

Copyright information

© Springer-Verlag 2004