A case of X-linked agammaglobulinemia with progressive encephalitis

• Published in: Pediatric neurology 2004-11, Vol.31 (5), p.371-373
• Main Authors: Shiroma, Naohide, Omi, Tsuyoshi, Hasegawa, Hideki, Nagashima, Kazuo, Ohta, Takao
• Format: Article
• Language: English
• Subjects: Agammaglobulinemia - complications; Agammaglobulinemia - genetics; Biological and medical sciences; Child, Preschool; Chromosomes, Human, X; Encephalitis - etiology; Encephalitis - pathology; Human viral diseases; Humans; Infectious diseases; Magnetic Resonance Imaging; Male; Medical sciences; Neurology; Protein-Tyrosine Kinases - genetics; Tumors of the nervous system. Phacomatoses; Viral diseases; Viral diseases of the nervous system
• ISSN: 0887-8994; 1873-5150
• DOI: 10.1016/j.pediatrneurol.2004.05.007

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-α 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.