2024/12/31 by Belhaj, R., Ayadi, L., Boudaoura, T. +6
#Chediak-Higashi syndrome #Hemophagocytic lymphohistiocytosis #accelerated phase #giant azurophilic granules #granules géants azuro- philes #lymphohistiocytose hémophagocytaire #phase accélérée #syndrome de Chediak-Higashi
paper · doi:10.71566/pist-rmp-194678
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive congenital immunodeficiency caused by mutations in CHS1, a gene encoding a putative lysosomal trafficking protein. It is typically characterized by infantile-onset hemophagocytic lymphohistiocytosis (HLH), which is lethal unless an allogeneic hemato- poietic stem cell transplantation (HSCT) is performed. Herein, we report the third Tunisian case of CHS in a 25-month-old boy who was referred to our pediatric unit for prolonged fever and abdominal distension. The diagnosis of a CHS in an accelerated phase was made on the basis of clinical characteristics, biological data, hair analysis, and identification of pathogno- monic giant azurophilic granules in peripheral blood and bone marrow.