A Rare Case of Shwachman-Diamond Syndrome: Diagnostic Challenges and Management

<i>Background</i>: Rare inherited bone marrow failure syndromes pose significant diagnostic challenges in pediatric practice due to their variable and overlapping clinical presentations. Shwachman-Diamond syndrome (SDS) is one such rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and variable immune deficiency. Due to its low prevalence and heterogeneous clinical presentation, SDS is frequently underrecognized or misdiagnosed, especially in pediatric patients. <i>Objective</i>: To review the diagnostic and therapeutic process of a pediatric patient with SDS, with the aim of enhancing clinical awareness and understanding of this rare multisystem disease. <i>Methods</i>: A detailed analysis was conducted of the patient’s clinical manifestations, physical examination findings, laboratory results, imaging data, and genetic testing, alongside a review of the therapeutic regimen and follow-up. Results: The patient exhibited hallmark features of SDS, including short stature, recurrent respiratory infections, and persistent neutropenia. Genetic analysis revealed an SBDS (NM_016038.4): c.258+2T>C (intron 2/4) mutation, confirming the diagnosis. Supportive and symptomatic treatments were administered, including infection prevention, nutritional support, and regular monitoring of hematologic status. <i>Conclusion</i>: This case underscores the importance of considering SDS in children with unexplained cytopenias and recurrent infections. Genetic testing plays a pivotal role in achieving a definitive diagnosis. Early recognition and appropriate management can improve outcomes and provide valuable reference for clinicians encountering similar cases.