title: Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.
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.
authors.affiliation: Neuroradiology Section, Department of Radiology, University of California-San Francisco, San Francisco, CA, USA.
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Takanashi
authors.forename: A James
authors.initials: AJ
authors.lastname: Barkovich
authors.forename: Sabrina F
authors.initials: SF
authors.lastname: Cheng
authors.forename: Kara
authors.initials: K
authors.lastname: Weisiger
authors.forename: Carol O
authors.initials: CO
authors.lastname: Zlatunich
authors.forename: Christine
authors.initials: C
authors.lastname: Mudge
authors.forename: Philip
authors.initials: P
authors.lastname: Rosenthal
authors.forename: Mendel
authors.initials: M
authors.lastname: Tuchman
authors.forename: Seymour
authors.initials: S
authors.lastname: Packman
mesh_terms: 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