title: [Familial Hemophagocytic Lymphohistiocytosis, That was Considered as Progressive Encephalitis before Sibling was Diagnosed].
abstract: Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder that is clinically characterized by fever, hepatosplenomegaly, cytopenia and sometimes vague or dramatic central nervous system (CNS) dysfunction. FHL affecting the CNS imitates several neurologic disorders and may be misdiagnosed, in particular when family history is unknown. We report an autopsy case of FHL that was firstly considered as progressive encephalitis. FHL was suspected after sibling had been affected by hemophagocytosis and the same CNS symptoms. Histopathologically, lymphocytes and macrophages infiltrated into the meninges, perivascular space, and parenchyma of the brain. Those lymphocytes were positive for CD3, CD8, GranzymeB, and negative for CD4, perforin. FHL must be included in the differential diagnostic considerations in children with progressive encephalitis.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Fukushima
authors.forename: Takeshi
authors.initials: T
authors.lastname: Inoue
authors.forename: Yuki
authors.initials: Y
authors.lastname: Kubo
authors.forename: Takahiro
authors.initials: T
authors.lastname: Okuno
authors.forename: Naomi
authors.initials: N
authors.lastname: Ishii
authors.forename: Yasutsugu
authors.initials: Y
authors.lastname: Kobayashi
authors.forename: Masao
authors.initials: M
authors.lastname: Togawa
authors.forename: Takao
authors.initials: T
authors.lastname: Manabe
authors.forename: Kai
authors.initials: K
authors.lastname: Yamasaki
authors.forename: Keiko
authors.initials: K
authors.lastname: Okada
authors.forename: Junichi
authors.initials: J
authors.lastname: Hara
mesh_terms: D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D003951:Diagnostic Errors; D004660:Encephalitis / Q000175:diagnosis*; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis*; D008264:Macrophages / Q000166:cytology / Q000276:immunology; D008297:Male; D035781:Siblings