Work

Oh rats! Intracellular rod‐like inclusions in an adolescent with Shwachman–Diamond syndrome

Year: 2024

Type: article

Abstract: To the Editor: Shwachman-Diamond syndrome (SDS) is a bone marrow failure disorder, characterized by exocrine pancreatic insufficiency, immunodeficiency, and predisposition to myelodysplasia and leukemia.1 Identifying intracellular inclusions, pancytopenia, and coagulopathy in a critically ill child with SDS is an ominous finding, but infectious etiologies must be considered.Impairment in neutrophil quantity and chemotaxis as well as B-cell and T-cell defects contribute to infection risk in SDS.2,3 Rat-bite fever (RBF) is an important bacterial zoonosis primarily caused by Streptobacillus moniliformis in North America, but the pathogenesis is understudied.[4][5][6] Here, we report a case of RBF in a child with SDS and discuss potential immune mechanisms of disease pathogenesis.A 17-year-old female with SDS was admitted for dehydration and acute kidney injury (AKI) with gastroenteritis symptoms.She was diagnosed with SDS as an infant, and managed with granulocyte colony-stimulating factor and pancreatic enzymes, but she was lost to

Source: Pediatric Blood & Cancer

DOI: 10.1002/pbc.30918