Shwachman–Diamond Syndrome: A Rare Possibility in a Child with Failure to Thrive and Recurrent Infections - A Case Report

Abstract Background: Shwachman–Diamond Syndrome (SDS) is a rare inherited autosomal recessive multisystem disorder, with features of pancreatic exocrine insufficiency, skeletal malformations, immunodeficiency, and bone marrow failure having a high risk of myeloid malignancies at a young age. Clinical Description: A 6.5-year-old girl presented with recurrent episodes of loose stools, cough with fever, and ear discharge since the age of 1 year, requiring multiple hospitalizations and blood transfusions. On examination, she was malnourished and stunted and had pallor, clubbing, oral mucositis, pectus carinatum, and hepatomegaly with crepitations in bilateral lung fields. Management and Outcome: Investigations showed anemia and leukopenia with normal iron, vitamin B12, and folic acid stores but elevated Hemoglobin F. Chest X-ray showed bilateral bronchiectasis, and bronchoscopy showed left lower lobe bronchomalacia. Diagnostic tests revealed low fecal elastase levels, absence of CFTR gene mutation, normal immunoglobulin profile, and a hypocellular bone marrow without dysplasia. Whole-exome sequencing from blood and buccal swab revealed a homozygous pathogenic mutation in SBDS gene, thus confirming SDS. Granulocyte colony-stimulating factor and pancreatic enzyme replacement therapy were started, though the latter could not be continued, the former being continued in follow-up. Thrombocytopenia developed later, though malignancy was ruled out. The child was referred for stem-cell transplantation. Conclusion: A possibility of SDS is to be kept in a child presenting with failure to thrive with recurrent respiratory and gastrointestinal infections requiring repeated blood transfusions. After ruling out cystic fibrosis and immunodeficiency disorders, an evaluation of the hematological system and exocrine pancreatic function, followed by genetic analysis, can confirm the diagnosis.