Late‐onset hemophagocytic lymphohistiocytosis with neurological presentation

Abstract

Key Clinical MessageMissense mutations in genes involved in familial hemophagocytic lymphohistiocytosis can delay the onset of this life‐threatening disease. In children and adults, early recognition of aspecific features as neurological symptoms is crucial as urgent treatment is required.

Chronic-graft-versus-host-disease-related polymyositis: a 17-months-old child with a rare and late complication of haematopoietic stem cell transplantation.

“…These variants, both homozygous and compound heterozygous, are described as related to HLH. 7,8 The patient started treatment with dexamethasone and cyclosporine, followed by emapalumab, a monoclonal antibody antiinterferon gamma. 9 She underwent HLA-matched unrelated donor HSCT at the age of 6 months (HLA-A, DRB1, permissive DPB1 allele mismatches).…”

“…Conditioning regimen: busulfan (3x3,2 mg/kg/day), fludarabine (3x50 mg/m 2 /day), thiotepa (2x5 mg/kg/day) and rabbit antithymocyte globulin (ATG Genzyme TM ) (3x4,5 mg/kg/day). The patient received 4.14x10 8 /kg bone marrow total nucleated cells and 7.37x10 6 /kg of CD34+ cells. GVHD prophylaxis was based on cyclophosphamide (2x50 mg/kg) and cyclosporine and low dose of prednisone (0,4 mg/kg/die).…”