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TL;DR
This case report describes a 2-month-old infant with Shwachman-Diamond syndrome who presented with severe isolated anemia and atypical pancreatic imaging, leading to a diagnosis confirmed by genetic testing.
JPGN reports · 7 authors, 4 centres
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This case report describes a 2-month-old infant with Shwachman-Diamond syndrome who presented with severe isolated anemia and atypical pancreatic imaging, leading to a diagnosis confirmed by genetic testing.
This case report describes a 2-month-old female infant with intrauterine and extrauterine growth restriction who presented with severe isolated anemia requiring transfusion. Diagnostic workup revealed an exocrine pancreatic insufficiency confirmed by low fecal elastase and atypical pancreatic imaging (reduced thickness and abnormal echogenicity on ultrasound and MRI, without fat infiltration). Genetic testing identified a homozygous c.258+2 T > C mutation in the SBDS gene, confirming Shwachman-Diamond syndrome (SDS). The authors highlight that the typical clinical, laboratory, and imaging features of SDS are often absent in early infancy, which can delay diagnosis. Key findings suggest that low birth weight, lack of catch-up growth, isolated hematological abnormalities other than neutropenia, and atypical pancreatic imaging can be early indicators.