Misdiagnosis as Asphyxiating Thoracic Dystrophy and CMV-Associated Hemophagocytic Lymphohistiocytosis in Shwachman-Diamond Syndrome

The study retrospectively analyzed 11 Belgian patients with Shwachman-Diamond syndrome (SDS) and found that SDS often presents with a diverse range of symptoms, including immunodeficiency, skeletal abnormalities, and exocrine pancreatic dysfunction. Misdiagnosis was common, with four patients initially misdiagnosed with Asphyxiating Thoracic Dystrophy due to similar skeletal features. Immunological abnormalities were observed in the majority of patients, with eight out of ten showing some form of immune dysfunction. Recurrent infections were frequent, and severe viral infections were noted, including CMV hepatitis and haemophagocytic lymphohistiocytosis in one patient. The study highlighted the need for thorough evaluation, including familial history, blood counts, pancreatic testing, and genotyping to avoid misdiagnosis. It also suggested that SDS is associated with a higher risk of immunodeficiency than previously recognized and that awareness of its diverse clinical manifestations could facilitate earlier diagnosis and treatment.