Objective: To explore the clinical features, diagnosis and treatment of the children with Shwachman Diamond syndrome (SDS), characterized by neutropenia and elevated transaminase, and to improve the clinicians' understanding of the disease. Methods: The clinical data of a case with neutropenia and elevated transaminase as the main manifestations, who was hospitalized in our department in February 2022, and was diagnosed as SDS by gene testing, were retrospectively analyzed, and the clinical manifestations, genetic characteristics and treatment of SDS were summarized in combination with relevant literature. Result: The 27 -month-old boy manifested with neutrophil decrease and evevated transaminase as the clinical symptoms. At the age of 3 months of age the patient experienced diarrhea which subsequently improved post oral treatment with pancreatin powder. Over the last six months, he endured recurrent respiratory infections. Radiographic assessments (X-rays) of limbs and long bones showed abnormal bone density, with genetic sequencing results revealing a homozygous mutation of SBDS gene c.258 + 2 T>C. During the hospitalization, the patient received symptomatic supportive treatments, including liver protection and granulocyte elevation. Upon clinical improvement, the patient was discharged and remained stable over a one-year follow-up. Conclusion: SDS is characterized by diarrhea, abnormal liver function, abnormal blood count, especially neutropenia and skeletal abnormalities. Potential manifestations include delayed growth and development. Additionally, the heart, liver, central nervous system, bones, and immune system may also be affected. Prompt genetic testing for suspected children can facilitate early diagnosis and treatment.

Shwachman-Diamond Syndrome, Abnormal Liver Function, Neutropenia, Genetic Testing