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Case Reports
. 2003 Jun-Jul;24(6):1184-7.

Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders

Jun-ichi Takanashi  1 , A James Barkovich, Sabrina F Cheng, Kara Weisiger, Carol O Zlatunich, Christine Mudge, Philip Rosenthal, Mendel Tuchman, Seymour Packman
Affiliations
Case Reports

Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders

Jun-ichi Takanashi et al. AJNR Am J Neuroradiol. 2003 Jun-Jul.

Abstract

We present brain MR images in three patients with neonatal-onset hyperammonemic encephalopathy resulting from urea-cycle disorders (two sisters with deficiency of the carbamyl phosphate synthetase I reaction step and one boy with an ornithine transcarbamylase deficiency). MR imaging revealed almost identical findings of injury to the bilateral lentiform nuclei and the deep sulci of the insular and perirolandic regions; to our knowledge, this pattern has not been previously reported. We hypothesize that these lesions presumably reflect the distribution of brain injury due to hypoperfusion secondary to hyperammonemia and hyperglutaminemia in the neonatal period.

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Figures

F<sc>ig</sc> 1.
Fig 1.
MR images in case 1. A, T1-weighted image (500/16/2) of the brain demonstrates T1 shortening in the bilateral lentiform nuclei (globi pallidi more than the putamina) and insular cortex (arrowheads). Left intraventricular hemorrhage is recognized. B, T2-weighted image (3000/120/1) shows low signal intensity in the left globus pallidus and high signal intensity in the corpora striata and white matter subjacent to the insular cortex (arrowhead). C, Sagittal T1-weighted image shows T1 shortening in the deep sulci of the insular and perirolandic regions and a retrocerebellar subdural hematoma. D, T1-weighted image obtained at the age of 7 months shows volume loss in the basal ganglia with T1 shortening in the putamina, reduced volume of cerebral white matter, and diffuse cortical atrophy. Myelination was recognized in the posterior limb of the internal capsule and in the optic radiation.
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