Wolman disease: diagnosis by leucocyte acid lipase estimation.
Indian J Pediatr
;
2005 Apr; 72(4): 353-4
Artigo
em Inglês
| 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:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Espectrofotometria
/
Humanos
/
Masculino
/
Doença de Wolman
/
Lactente
/
Leucócitos
/
Lipase
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2005
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS