title: A case of X-linked agammaglobulinemia with progressive encephalitis.
abstract: This report describes a case of agammaglobulinemia with progressive encephalitis. The patient was a 6-year-old male who was diagnosed as having Bruton-type agammaglobulinemia at age 6 months. After the diagnosis was made, he received monthly intravenous immunoglobulin replacement with a residual immunoglobulin G level of more than 400 mg/dL. At 5 years of age, he presented with symptoms of mental deterioration and gait disturbance. He had no history of infection of the central nervous system. Brain biopsy revealed CD8-positive T-cell infiltration with cortical damage, but no infectious agents were observed by either immunohistochemistry or virus isolation. Treatment with subcutaneous interferon-alpha and high-dose intravenous immunoglobulin was begun, and clinical symptoms improved within a month. Hence, patients with agammaglobulinemia should be carefully monitored for complications of the central nervous system even if there is no history of infection.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, Okinawa, Japan.
authors.forename: Naohide
authors.initials: N
authors.lastname: Shiroma
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Omi
authors.forename: Hideki
authors.initials: H
authors.lastname: Hasegawa
authors.forename: Kazuo
authors.initials: K
authors.lastname: Nagashima
authors.forename: Takao
authors.initials: T
authors.lastname: Ohta
mesh_terms: D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000150:complications* / Q000235:genetics*; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D004660:Encephalitis / Q000209:etiology* / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D011505:Protein-Tyrosine Kinases / Q000235:genetics
chemical_list: D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase