Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency

We examined brain magnetic resonance imaging (MRI) in a cohort of seven patients with ornithine transcarbamylase deficiency (OTCD), and correlated MRI findings with clinical manifestations. Seven patients with OTCD, aged 3–27 years, all with a missense mutation, were involved in the study. We classified the OTCD patients clinically into four stages. MR study was performed with a 1.5-T superconducting magnet during asymptomatic periods. MRI revealed white matter lesions in two patients with an advanced clinical stage, i.e. T1 and T2 prolongated round lesions in the deep white matter and posterolateral angle of the lateral ventricle in one patient; small foci of T2 and T1 prolongation in the subcortical white matter in another. Parenchymal lesions, and cerebral and cerebellar atrophy were not found in the other five patients. MRI might be normal in the early stage of the disease, and progress in proportion to the clinical stage of OTCD. OTCD should be considered as a differential diagnosis of small foci in the white matter in children.