Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.
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.
Takanashi
Jun-ichi
J
Neuroradiology Section, Department of Radiology, University of California-San Francisco, San Francisco, CA, USA.
Barkovich
A James
AJ
Cheng
Sabrina F
SF
Weisiger
Kara
K
Zlatunich
Carol O
CO
Mudge
Christine
C
Rosenthal
Philip
P
Tuchman
Mendel
M
Packman
Seymour
S
D001284:Atrophy; D001921:Brain / Q000473:pathology*; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000235:genetics; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis* / Q000235:genetics; D015518:Rett Syndrome / Q000175:diagnosis* / Q000235:genetics