Flumazenil responsive ornithine transcarbamylase deficiency encephalopathy: clinical and radiographic features.
A 22-year-old woman with a negative urine drug screen and somnolence rapidly reversed by intravenous flumazenil was found to have elevated ammonia levels and punctate calcifications of the subcortical frontal white matter. Abnormally high levels of orotic acid were found in serum and urine, confirming the diagnosis of ornithine transcarbamylase deficiency. Although computed tomography findings are non-specific, young patients with unexplained hyperammonemic states of somnolence reversed by flumazenil should be screened for this X-linked recessive metabolic disorder.
Meyer
Michael A
MA
Positron Emission Tomography Imaging Division, Lucy Dent Imaging Center, Dent Neurologic Institute, Buffalo, New York, USA. mmeyer@dentinstitute.com
Gavrilova
Ralitza H
RH
D000328:Adult; D005260:Female; D005442:Flumazenil / Q000627:therapeutic use*; D018757:GABA Modulators / Q000627:therapeutic use*; D006801:Humans; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000000981:diagnostic imaging* / Q000188:drug therapy*; D014057:Tomography, X-Ray Computed
D018757:GABA Modulators; D005442:Flumazenil