A female case of ornithine transcarbamylase deficiency with marked computed tomographic abnormalities of the brain.
The patient, 2 years and 9 months of age, was referred to our hospital with complaints of frequent vomiting, left hemiconvulsion and deep coma. The serum ammonia level was 251 micrograms/dl. Urine had a high orotate level (3,900 mumol/g creatinine). There was 7% residual of ornithine transcarbamylase (OTC) activity in the liver. Activities of other enzymes of the urea cycle were within normal limits. CT scanning on admission showed diffuse low density of both frontal lobes and of the right temporo-parietal lobe, narrowing of the right lateral ventricle and a shift of the mid-line to the left. The diffuse low density area was not enhanced after contrast medium injection. Follow-up CT scanning showed progressive bilateral ventricular dilatation and cerebral and cerebellar atrophy.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology; D000641:Ammonia / Q000097:blood*; D001921:Brain / Q000000981:diagnostic imaging*; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000201:enzymology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D014057:Tomography, X-Ray Computed
D000641:Ammonia