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.
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