Sogut Ayhan, Acun Ceyda, Aydin Kubilay, Tomac Nazan, Demirel Fatma, Aktuglu Cigdem
Department of Paediatrics, Karaelmas University, Zonguldak, Turkey.
Pediatr Radiol. 2004 Feb;34(2):160-2. doi: 10.1007/s00247-003-1049-8. Epub 2003 Oct 8.
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.
异戊酸血症是一种由于异戊酰辅酶A脱氢酶缺乏导致的亮氨酸代谢先天性缺陷疾病，该疾病会导致异戊酸在体液中蓄积。该病有急性和慢性间歇性两种形式。我们展示了一名19个月大患慢性间歇性异戊酸血症女孩的头颅CT和MRI检查结果。她表现为严重代谢性酸中毒、高血糖、糖尿、酮尿和急性脑病。头颅CT显示双侧苍白球低密度影。MRI显示苍白球和中脑皮质脊髓束有信号改变，在T1加权像上呈低信号，在T2加权像上呈高信号。
