Isovaleric acidaemia: cranial CT and MRI findings


Sogut A., Acun C., Aydin K., Tomsac N., Demirel F., Aktuglu C.

PEDIATRIC RADIOLOGY, vol.34, no.2, pp.160-162, 2004 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 34 Issue: 2
  • Publication Date: 2004
  • Doi Number: 10.1007/s00247-003-1049-8
  • Journal Name: PEDIATRIC RADIOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.160-162
  • Istanbul University Affiliated: No

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.