An Unusual Presentation of Extremely Early Neonatal Cirrhosis in Shwachman-Diamond Syndrome: A Case Report.
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ABSTRACT:
SUBMITTER: Reddy T
PROVIDER: S-EPMC10241746 | biostudies-literature | 2023 May
REPOSITORIES: biostudies-literature
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An Unusual Presentation of Extremely Early Neonatal Cirrhosis in Shwachman-Diamond Syndrome: A Case Report.
Reddy Tejaswy T Kotha Rakesh R M Alimelu A
Cureus 20230505 5
Exocrine pancreatic insufficiency, haematological dysfunction, and skeletal abnormalities are the three clinical characteristics of the rare inherited bone marrow failure syndrome (IBMFS), known as Shwachman-Diamond syndrome (SDS). Cirrhosis at a neonatal age is uncommon and is typically not documented, as in neonatal presentation. Here, we present a case of SDS in which bi-cytopenia with macro-nodular cirrhosis emerged before the age of one month. Utilising genetic testing on the infant and bot ...[more]
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| S-EPMC8753194 | biostudies-literature
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