Pediatric Radiology

, Volume 34, Issue 2, pp 160–162

Isovaleric acidaemia: cranial CT and MRI findings

  • Ayhan Sogut
  • Ceyda Acun
  • Kubilay Aydin
  • Nazan Tomsac
  • Fatma Demirel
  • Cigdem Aktuglu
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

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

BrainMetabolic disorderIsovaleric acidaemiaCTMRIChild

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Ayhan Sogut
    • 1
  • Ceyda Acun
    • 1
  • Kubilay Aydin
    • 2
  • Nazan Tomsac
    • 1
  • Fatma Demirel
    • 1
  • Cigdem Aktuglu
    • 3
  1. 1.Department of PaediatricsKaraelmas UniversityZonguldakTurkey
  2. 2.Department of Radiology, Istanbul Medical SchoolIstanbul UniversityIstanbulTurkey
  3. 3.Department of Paediatrics, Cerrahpasa Medical SchoolIstanbul UniversityIstanbulTurkey