Wolman's Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis.
Wolman's disease
adrenal calcification
cirrhosis
infantile cholestasis
Journal
Journal of pediatric genetics
ISSN: 2146-4596
Titre abrégé: J Pediatr Genet
Pays: Germany
ID NLM: 101589859
Informations de publication
Date de publication:
Jun 2022
Jun 2022
Historique:
received:
25
05
2020
accepted:
20
06
2020
entrez:
30
6
2022
pubmed:
20
8
2020
medline:
20
8
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 35769959
doi: 10.1055/s-0040-1715119
pii: 2000079
pmc: PMC9236733
doi:
Types de publication
Case Reports
Langues
eng
Pagination
132-134Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of Interest None declared.
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