Wolman's Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis
| Autor: | Mettu Srinivas Reddy, Naresh Shanmugam, Anil Jalan, Sripriya Srinivas, Jagadeesh Menon, Mohamed Rela, Mukul Vij |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
Cirrhosis business.industry medicine.medical_treatment Enzyme replacement therapy Hematopoietic stem cell transplantation medicine.disease Gastroenterology Cholestasis Biliary atresia Internal medicine Pediatrics Perinatology and Child Health Etiology medicine Decompensation business Genetics (clinical) Wolman's disease |
| Zdroj: | J Pediatr Genet |
| Popis: | Liver cirrhosis in infancy can be secondary to various etiologies such as biliary atresia, familial cholestatic and metabolic disorders. Wolman's disease (WD) is a lysosomal storage disorder caused by the absence of lysosomal acid lipase enzyme activity and a significant association with infantile cholestasis and cirrhosis. We encountered an infant presenting with advanced cirrhosis and decompensation having splenomegaly for which the underlying etiology was found to be WD and the diagnostic clue came from abdominal X-ray showing bilateral adrenal calcifications. The diagnosis was confirmed by genetic analysis. The outcome was poor and died before 6 months of age without enzyme replacement therapy or hematopoietic stem cell transplantation. |
| Databáze: | OpenAIRE |
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