Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency
| Autor: | S. Lingam, V. G. Oberholzer, J. V. Leonard, B. E. Kendall, D. P. E. Kingsley |
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| Rok vydání: | 1983 |
| Předmět: |
Male
medicine.medical_specialty Pathology Encephalopathy Ornithine Carbamoyltransferase Deficiency Disease Gastroenterology Diagnosis Differential chemistry.chemical_compound Atrophy Ammonia Intellectual Disability Internal medicine Humans Medicine Amino Acids Child Amino Acid Metabolism Inborn Errors Brain Diseases Metabolic business.industry Brain Infant Transferase deficiency Ornithine medicine.disease Psychiatry and Mental health chemistry Child Preschool Failure to thrive Female Surgery sense organs Neurology (clinical) medicine.symptom Differential diagnosis Age of onset Tomography X-Ray Computed business Research Article |
| Zdroj: | Journal of Neurology, Neurosurgery & Psychiatry. 46:28-34 |
| ISSN: | 0022-3050 |
| DOI: | 10.1136/jnnp.46.1.28 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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