Rasmussen syndrome combined with IgA deficiency and membranous nephropathy.
A 9-year-old boy diagnosed as having Rasmussen syndrome had congenital IgA deficiency and juvenile alopecia. He developed auditory hallucination and consciousness disturbance with intractable complex partial epileptic status. Anti-glutamate receptor epsilon2 antibodies were detected in his serum and cerebrospinal fluid. He was administered immunomodulatory agents and his seizures were treated with an intravenous anticonvulsant for 2 months. Subsequently, he developed a nephrotic syndrome, which proved to be membranous nephropathy and was treated with cyclophosphamide. Anti-basement membrane antibodies were detected in his serum. The boy died at the age of 14 years, and autopsy revealed diffuse brain atrophy with neuronal loss, infiltration of glial cells in the cerebrum, and loss of Purkinje cells in the cerebellum. A kidney specimen contained many sclerotic glomeruli, indicative of progressive membranous nephropathy. The patient was considered to have multimodal autoimmune disorder producing juvenile alopecia, autoimmune encephalitis, and a membranous nephropathy, based on the congenital IgA deficiency.
Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Japan. k-ichi@urahp.yokohama-cu.ac.jp
Kazushi
K
Ichikawa
Saoko
S
Takeshita
Shuichi
S
Ito
Atsuo
A
Nezu
D000324:Adrenocorticotropic Hormone / Q000378:metabolism; D001921:Brain / Q000473:pathology; D002648:Child; D004660:Encephalitis / Q000150:complications* / Q000276:immunology; D015433:Glomerulonephritis, Membranous / Q000150:complications* / Q000276:immunology; D006801:Humans; D017098:IgA Deficiency / Q000150:complications*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008775:Methylprednisolone / Q000378:metabolism; D011239:Prednisolone / Q000378:metabolism
D000324:Adrenocorticotropic Hormone; D011239:Prednisolone; D008775:Methylprednisolone