A female case of ornithine transcarbamylase deficiency with marked computed tomographic abnormalities of the brain.
Brain Dev
; 6(1): 58-60, 1984.
Article
em En
| MEDLINE
| ID: mdl-6731721
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Tomografia Computadorizada por Raios X
/
Doença da Deficiência de Ornitina Carbomoiltransferase
/
Amônia
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Brain Dev
Ano de publicação:
1984
Tipo de documento:
Article