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RT Journal Article
SR Electronic
T1 Brain MR Imaging in Neonatal Hyperammonemic Encephalopathy Resulting from Proximal Urea Cycle Disorders
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1184
OP 1187
VO 24
IS 6
A1 Takanashi, Jun-ichi
A1 Barkovich, A. James
A1 Cheng, Sabrina F.
A1 Weisiger, Kara
A1 Zlatunich, Carol O.
A1 Mudge, Christine
A1 Rosenthal, Philip
A1 Tuchman, Mendel
A1 Packman, Seymour
YR 2003
UL http://www.ajnr.org/content/24/6/1184.abstract
AB Summary: 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.