A Case Report of Shwachman-Diamond Syndrome and Literature Review

Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive genetic disorder, with approximately 90% of cases caused by pathogenic variants in the SBDS gene. This report describes a case of SDS diagnosed during the management of acute appendicitis. The patient, a male aged two years and 11 months, was admitted for emergency surgery for acute appendicitis. Subsequent evaluation revealed pancreatic exocrine dysfunction, pancreatic steatosis, abnormal liver function, and a history of recurrent diarrhea and neutropenia. Next-generation sequencing identified compound heterozygous SBDS variants: NM_016038.2:c.183_184TA>CT (p.Lys62*) and NM_016038.2:c.258+2T>C. This case highlights the importance of considering SDS in children presenting with recurrent neutropenia, impaired pancreatic exocrine function, pancreatic steatosis, and elevated liver enzymes. Early genetic testing facilitates timely diagnosis and appropriate multidisciplinary management to improve long-term outcomes.