title: Familial haemophagocytic lymphohistiocytosis: survival of a premature twin with immuno-chemotherapy and bone marrow transplantation from an HLA-identical unrelated donor.
abstract: We describe a premature twin born at 30 wk of gestational age, affected with familial haemophagocytic lymphohistiocytosis. Two different mutations were identified in his DNA: one inherited from the mother and one from the father. Haemophagocytosis had been confirmed in his twin brother, who died soon after birth, as well as in the re-evaluation of the autopsy of his older sister, who died 1 y earlier. At 26 d of age, chemotherapy and immune-suppressive treatment were started according to the HLH-94 protocol. At 6 mo of age, a bone marrow transplant from an HLA-identical, unrelated volunteer was performed. Now at 32 mo of age, the infant is healthy and without signs of graft-versus-host disease.
  
  
  CONCLUSIONS
  This case report shows that immuno-chemotherapy and allogenic bone marrow transplant are feasible even in premature infants affected with familial haemophagocytic lymphohistiocytosis, which should be ruled out in unknown bleeding disorders of neonates.
authors.affiliation: Neonatal Intensive Care Unit, Clinica Pediatrica, University of Verona, Via delle Menegone, 37134 Verona, Italy. simone.rugulotto@azosp.vr.it
authors.forename: Simone
authors.initials: S
authors.lastname: Rugolotto
authors.forename: Pier Luigi
authors.initials: PL
authors.lastname: Marradi
authors.forename: Rita
authors.initials: R
authors.lastname: Balter
authors.forename: Rita
authors.initials: R
authors.lastname: Maccario
authors.forename: Ezio Maria
authors.initials: EM
authors.lastname: Padovani
authors.forename: Franco
authors.initials: F
authors.lastname: Locatelli
mesh_terms: D016026:Bone Marrow Transplantation; D016572:Cyclosporine / Q000008:administration & dosage; D004200:Diseases in Twins / Q000235:genetics* / Q000628:therapy; D004359:Drug Therapy, Combination; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000235:genetics* / Q000628:therapy*; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D008297:Male; D019172:Transplantation Conditioning
chemical_list: D007166:Immunosuppressive Agents; D016572:Cyclosporine