Occurrence of haemophagocytic lymphohistiocytosis at less than 1 year of age: analysis of 96 patients.
We analysed data of 96 infants (under 1 year of age) with haemophagocytic lymphohistiocytosis (HLH) from the registry of an HLH study conducted during 1986-2002 in Japan. The cases were classified into five groups. The diagnosis of familial HLH (FHL) as group 1 (n = 27) was made with positive family history and/or recent molecular test for perforin and Munc13-4 mutations. Neonatal enterovirus- or herpes simplex virus-associated HLH as group 2a (n = 7), Epstein-Barr virus-associated HLH (n = 12) as group 2b, adenovirus- or cytomegalovirus-associated HLH as group 3 (n = 9) were mostly diagnosed by viral isolation or by the detection of viral genome. Juvenile rheumatoid arthritis-associated macrophage activation syndrome was classified as group 4 (n = 4) and the remaining without known triggers as group 5 (n = 37). The peak onset age was 1-2 months for group 1, 1-2 weeks 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 define the precise nature of HLH in group 5.


CONCLUSIONS
These data may provide useful information for neonatologists/ paediatricians in the differential diagnosis of haemophagocytic lymphohistiocytosis in early infancy.
Imashuku
Shinsaku
S
Division of Paediatrics, Takasago-Seibu Hospital, 1-10-41 Nakasuji, Takasago City, Hyogo Prefecture, Japan. shinim95@mbox.kyoto-inet.or.jp
Ueda
Ikuyo
I
Teramura
Tomoko
T
Mori
Kanako
K
Morimoto
Akira
A
Sako
Masahiro
M
Ishii
Eiichi
E
D017668:Age of Onset; D001171:Arthritis, Juvenile / Q000150:complications; D005260:Female; D015616:Histiocytosis, Non-Langerhans-Cell / Q000453:epidemiology* / Q000209:etiology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D007564:Japan / Q000453:epidemiology; D060588:LIM Domain Proteins; D008262:Macrophage Activation; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins; D012042:Registries; D014777:Virus Diseases / Q000150:complications
C117563:FHL3 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D060588:LIM Domain Proteins; D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin
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