Schwachman Diamond-Like Syndrome Due to a Novel Variant of DNAJC21 Gene: A Case Report and Literature Review

Background: Shwachman-Diamond syndrome (SDS) is a rare inherited disorder characterized by hematological abnormalities, including varying degrees of cytopenia up to pancytopenia, in association with exocrine pancreatic insufficiency and skeletal defects. Observation: We report the case of a 13-month-old infant admitted for pancytopenia. Clinical examination revealed severe growth retardation, facial dysmorphism, and genu valgum. Bone marrow aspiration showed a hypoplastic marrow. He also had exocrine pancreatic insufficiency. Molecular analysis identified a homozygous pathogenic variant in the DNAJC21 gene. Conclusion: In this report, we detail the clinical spectrum, biological data, and genotype of a Tunisian child with a severe SDS-like phenotype caused by a novel pathogenic variant in the DNAJC21 gene.