Familial Hemophagocytic Lymphohistiocytosis, That was Considered as Progressive Encephalitis before Sibling was Diagnosed

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...

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Published inRinsho byori. The Japanese journal of clinical pathology Vol. 63; no. 7; p. 799
Main Authors Fukushima, Hiroko, Inoue, Takeshi, Kubo, Yuki, Okuno, Takahiro, Ishii, Naomi, Kobayashi, Yasutsugu, Togawa, Masao, Manabe, Takao, Yamasaki, Kai, Okada, Keiko, Hara, Junichi
Format Journal Article
LanguageJapanese
Published Japan 01.07.2015
Subjects
Brain - pathology
Child, Preschool
Diagnostic Errors
Encephalitis - diagnosis
Humans
Lymphohistiocytosis, Hemophagocytic - diagnosis
Macrophages - cytology
Macrophages - immunology
Male
Siblings
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Summary: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.
ISSN:0047-1860