Isovaleric acidaemia: Cranial CT and MRI findings

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

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)160-162
Number of pages3
JournalPediatric radiology
Issue number2
StatePublished - Feb 2004


  • Brain
  • CT
  • Child
  • Isovaleric acidaemia
  • MRI
  • Metabolic disorder

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging


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