Ilham ELOUARDIGHI, Lamya EL IAZIJI, Amina BARKAT
Annals of Clinical and Analytical Medicine - 2026;17(6):635-637
Introduction: DICER1 syndrome is a familial tumor predisposition syndrome resulting from genetic mutations in a gene called DICER1. This syndrome is also known as DICER1-related disorders and DICER1-related pleuropulmonary blastoma familial tumor predisposition syndrome. It is autosomal dominant, and diagnosis in the neonatal period is exceptional. Symptoms of DICER1 syndrome include abnormal growths in the lungs, kidneys, thyroid, and ovaries (for females). Case Presentation: We report the observation of a male neonate, hospitalized at the National Referral Center for Neonatal Intensive Care and neonatology at Rabat University Hospital for neonatal respiratory distress, in whom we confirmed the diagnosis of DICER1 syndrome. Conclusion: Information and studies on this disease remain limited due to its rarity, and ongoing research is needed to better understand its epidemiology and clinical implications. It is a rare mutation that should be considered in the presence of such an association, particularly in pediatric cancers.
