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 both parents, we were able to confirm the diagnosis. We were expecting a higher-level liver transplant set-up, but the infant passed away in the interim. Genetic studies play a significant part in the diagnosis of difficult cases.
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| http://dx.doi.org/10.7759/cureus.38583 | DOI Listing |
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Article Synopsis
- - Shwachman-Diamond syndrome is a complex disorder that involves both genetic and clinical variation, and this report focuses on a particularly severe case in an infant.
- - The infant was found to have two specific EFL1 gene mutations (c.89A>G and c.2599A>G) that were inherited from each parent, contributing to the severity of the syndrome.
- - Laboratory analyses of cells from the patient indicated that these mutations disrupted the production of functional ribosomes, which hindered protein synthesis and led to the critical health issues observed in this case.
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