• Zumiao Liu, Qing Tang, Xiuqi Chen, Li Huang, Liancheng Lan, Zili Lv, Xia Yang, and Qingwen Shan.
• Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.
• Medicine (Baltimore). 2024 Sep 6; 103 (36): e39210e39210.

RationaleShwachman-Diamond syndrome (SDS) is a rare autosomal recessive genetic disease, the diagnosis is a big challenge for clinician, as the clinical manifestations of the disease are diverse. Here, we report a girl who diagnosed with SDS with the symptoms of recurrent fever, elevated transaminase levels, and granulocytosis. The aspects of diagnosis and treatment were discussed and a literature review was conducted.Patient ConcernsA 15-month-old girl admitted to our hospital because of recurrent fever, granulocytopenia, and elevated transaminase levels.Diagnosis And InterventionsThe compound heterozygous variant of Shwachman-Bodian-Diamond syndrome c.258 + 2T > C:p.84Cfs3 and c.96C > G:p.Y32* were detected after sequencing the blood samples from the patient and her parents. Finally, she was diagnosed with SDS and she was treated with compound glycyrrhizin, granulocyte-colony stimulating factor, and antibiotic in the case of co-infection.OutcomesDuring the follow-up, her liver function showed the level of transaminases decreased and she rarely had infection after the age of 15 months although neutropenia is still present.LessonsPatients with SDS lacks typical clinical symptoms, which presents a huge challenge for clinicians. Genetic testing techniques is playing an important role in the diagnosis of diseases. This patient without typical clinical manifestations such as exocrine pancreatic insufficiency and skeletal abnormality, we report this case aimed to strengthen the understanding of the disease.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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