CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: case report.
We report CT and MRI findings in a girl with late-onset ornithine transcarbamylase deficiency, who presented with progressive somnolence. Both imaging methods showed signs of an acute cerebral ischaemia with new defects on follow-up. Despite an unusual clinical presentation, laboratory studies led to the diagnosis of this rare inherited metabolic defect.
Bajaj
S K
SK
Department of Clinical Radiology, University Hospitals of Münster, Germany.
Kurlemann
G
G
Schuierer
G
G
Peters
P E
PE
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000641:Ammonia / Q000097:blood; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D014057:Tomography, X-Ray Computed
D000641:Ammonia