Wolman disease: diagnosis by leucocyte acid lipase estimation.
Indian J Pediatr
;
2005 Apr; 72(4): 353-4
Artículo
en Inglés
| IMSEAR
| ID: sea-83141
ABSTRACT
Wolman disease is a rare fatal autosomal recessive disorder caused by absence of acid lipase enzyme leading to accumulation of cholesterol ester. Hepatosplenomegaly is a constant feature and occurs as early as fourth day of life. Progressive mental deterioration may occur after few weeks of onset of symptoms. Adrenal calcification seen on X-ray abdomen, USG or CT scan is the hallmark of Wolman disease. For the first time in Indian literature, the authors report a case of Wolman disease that was confirmed by acid lipase enzyme estimation.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Espectrofotometría
/
Humanos
/
Masculino
/
Enfermedad de Wolman
/
Lactante
/
Leucocitos
/
Lipasa
Tipo de estudio:
Estudio diagnóstico
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2005
Tipo del documento:
Artículo
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