Wolman disease: Diagnosis by leucocyte acid lipase estimation
Autor: | B. A. Barucha, Talib Y. Surve, Mamta N. Muranjan |
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Rok vydání: | 2005 |
Předmět: |
Male
medicine.medical_specialty Hepatosplenomegaly Triacylglycerol lipase Wolman disease Gastroenterology chemistry.chemical_compound Internal medicine Leukocytes medicine Humans Adrenal calcification Acid lipase Cholesterol business.industry Wolman Disease Infant Lipase medicine.disease medicine.anatomical_structure Endocrinology chemistry Spectrophotometry Pediatrics Perinatology and Child Health Abdomen medicine.symptom business Lipoprotein |
Zdroj: | The Indian Journal of Pediatrics. 72:353-354 |
ISSN: | 0973-7693 0019-5456 |
DOI: | 10.1007/bf02724020 |
Popis: | 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. |
Databáze: | OpenAIRE |
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