We analysed data of 96 infants (under 1 year of age) with haemophagocytic lymp hohistiocytosis (HLH) from the registry of an HLH study conducted during 1986-2 002 in Japan. The cases were classified into five groups. ...We analysed data of 96 infants (under 1 year of age) with haemophagocytic lymp hohistiocytosis (HLH) from the registry of an HLH study conducted during 1986-2 002 in Japan. The cases were classified into five groups. The diagnosis of famil ial HLH (FHL) as group 1 (n =27) wasmade with positive family history and/or rec ent molecular test for perforin and Munc13-4 mutations. Neonatal enterovirus-o r herpes simplex virus-associated HLH as group 2a (n =7), Epstein-Barr virus- associated HLH (n =12) as group 2b, adenovirus-or cytomegalovirus-associated H LH as group 3 (n =9)were mostly diagnosed by viral isolation or by the detection of viral genome. Juvenile rheumatoid arthritis-associated macrophage activatio n syndrome was classified as group 4 (n =4) and the remaining without known trig gers as group 5 (n =37). The peak onset age was 1-2 months for group 1, 1-2 we eks for group 2a, 12 months for group 2b, none for group 3, 9 months for group 4 and 2 months for group 5. Future novel diagnostic measures are required to defi ne the precise nature of HLH in group 5. Conclusion:These data may provide usefu l information for neonatologists/ paediatricians in the differential diagnosis o f haemophagocytic lymphohistiocytosis in early infancy.展开更多
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...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. Conclusion: 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.展开更多
文摘We analysed data of 96 infants (under 1 year of age) with haemophagocytic lymp hohistiocytosis (HLH) from the registry of an HLH study conducted during 1986-2 002 in Japan. The cases were classified into five groups. The diagnosis of famil ial HLH (FHL) as group 1 (n =27) wasmade with positive family history and/or rec ent molecular test for perforin and Munc13-4 mutations. Neonatal enterovirus-o r herpes simplex virus-associated HLH as group 2a (n =7), Epstein-Barr virus- associated HLH (n =12) as group 2b, adenovirus-or cytomegalovirus-associated H LH as group 3 (n =9)were mostly diagnosed by viral isolation or by the detection of viral genome. Juvenile rheumatoid arthritis-associated macrophage activatio n syndrome was classified as group 4 (n =4) and the remaining without known trig gers as group 5 (n =37). The peak onset age was 1-2 months for group 1, 1-2 we eks for group 2a, 12 months for group 2b, none for group 3, 9 months for group 4 and 2 months for group 5. Future novel diagnostic measures are required to defi ne the precise nature of HLH in group 5. Conclusion:These data may provide usefu l information for neonatologists/ paediatricians in the differential diagnosis o f haemophagocytic lymphohistiocytosis in early infancy.
文摘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. Conclusion: 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.