title: Isovaleric acidaemia: cranial CT and MRI findings.
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.
authors.affiliation: Department of Paediatrics, Karaelmas University, Zonguldak, Turkey.
authors.forename: Ayhan
authors.initials: A
authors.lastname: Sogut
authors.forename: Ceyda
authors.initials: C
authors.lastname: Acun
authors.forename: Kubilay
authors.initials: K
authors.lastname: Aydin
authors.forename: Nazan
authors.initials: N
authors.lastname: Tomac
authors.forename: Nazan
authors.initials: N
authors.lastname: Tomsac
authors.forename: Fatma
authors.initials: F
authors.lastname: Demirel
authors.forename: Cigdem
authors.initials: C
authors.lastname: Aktuglu
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000000981:diagnostic imaging* / Q000378:metabolism / Q000473:pathology*; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology*; D005260:Female; D045782:Hemiterpenes; D006801:Humans; D007223:Infant; D050769:Isovaleryl-CoA Dehydrogenase; D007930:Leucine / Q000378:metabolism*; D008279:Magnetic Resonance Imaging; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency; D010421:Pentanoic Acids / Q000097:blood*; D014057:Tomography, X-Ray Computed
chemical_list: D045782:Hemiterpenes; D010421:Pentanoic Acids; C008216:isovaleric acid; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050769:Isovaleryl-CoA Dehydrogenase; D007930:Leucine