Isovaleric acidaemia: cranial CT and MRI findings


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

PEDIATRIC RADIOLOGY, cilt.34, sa.2, ss.160-162, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 2
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1007/s00247-003-1049-8
  • Dergi Adı: PEDIATRIC RADIOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.160-162
  • İstanbul Üniversitesi Adresli: Hayır

Özet

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.