[Wolman disease: a case report]
Revue Marocaine des Maladies de l'Enfant. 2003; (1): 49-52
en Francés
| IMEMR
| ID: emr-64359
ABSTRACT
The Wolman disease is a rare autosomal recessive disorder associated with reduced activity of lysosomal acid lipase [LAL] witch leads to the tissue accumulation of cholestryl esters and triglycerides. The authors report a case of 3 month-old infant who was admitted for abdominal distension with hepato-splenomegaly, diarrhea, vomiting, anemia and inanition. The diagnosis was made on the radiological evidence of bilateral adrenal calcifications. The patient died during the first 3 months of life. It is recommended that plain abdominal X-Ray must be obtained to check for the typical pattern of adrenal calcification in any young infant with evidence of a storage disease without dysmorphic features
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Índice:
IMEMR (Mediterraneo Oriental)
Asunto principal:
Diagnóstico Prenatal
/
Enfermedad de Wolman
/
Lipasa
Tipo de estudio:
Informe de Casos
Límite:
Humanos
/
Masculino
Idioma:
Francés
Revista:
Rev. Marocaine Mal. Enfant
Año:
2003
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