Palatal Perforation as a Rare Presentation of Severe Congenital Neutropenia Due to an ELANE Mutation

Le résumé fourni par la source

Severe congenital neutropenia (SCN) is a rare inherited bone marrow failure syndrome characterized by profound neutropenia from early infancy, most commonly caused by heterozygous pathogenic variants in the ELANE gene. Affected children are predisposed to recurrent, severe bacterial and fungal infections. Palatal perforation has rarely been described in the setting of SCN. We report a seven-month-old infant with recurrent severe infections, profound neutropenia, palatal perforation, and nasal septal necrosis. Although invasive fungal infection was strongly suspected, repeated microbiological and histopathological investigations were negative. Genetic testing confirmed ELANE-associated SCN. This case highlights a rare presentation of SCN and emphasizes the importance of considering inherited neutropenia in infants with recurrent infections and destructive midline lesions for early diagnosis and timely treatment. This case highlights palatal perforation in ELANE-associated SCN. Recognition of such manifestations is important to avoid diagnostic delay and prompt early consideration of inherited neutropenia syndromes in infants with necrotic midline lesions.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.