Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, failure to thrive, and skeletal abnormalities. It is most commonly diagnosed in early childhood after the development of hematologic abnormalities. We report a premature infant born at 33 weeks gestation who was small for gestational age and displayed persistent cytopenias requiring transfusion. Genetic testing confirmed a diagnosis of Shwachman-Diamond syndrome (SDS).
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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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