Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency.
The clinical features and the computed tomographic appearances of the brain in seven children with ornithine carbamoyl transferase deficiency are described. Episodic vomiting and drowsiness, acute encephalopathy, failure to thrive and developmental retardation were common, but focal neurological symptoms and signs were also observed. The CT appearances were non-specific with generalised or focal changes. They were related to the severity, the duration and the age of onset of the hyperammonaemia. Since the CT changes may suggest conditions other than metabolic disease, the emergency investigation of a child with an encephalopathy should include the estimation of plasma ammonium and, if elevated, the appropriate investigations to establish the cause.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D000596:Amino Acids / Q000097:blood; D000641:Ammonia / Q000097:blood*; D001284:Atrophy; D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000201:enzymology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000201:enzymology; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D014057:Tomography, X-Ray Computed
D000596:Amino Acids; D000641:Ammonia