title: Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis.
abstract: Acute disseminated encephalomyelitis (ADEM) is a monophasic, immune-mediated demyelinating disorder that can appear after either immunizations or, more often, infections. Magnetic resonance imaging of patients shows inflammatory lesions in the brain and spinal cord. An immune-mediated mechanism may play a role in this disease, although its precise pathogenesis remains unclear. In this study, a 2-year-old boy presented with ADEM, and he showed improvement on treatment with high-dose intravenous corticosteroids. At the age of 3 years, the presence of recurrent bronchitis, bronchiectasia, and lymphopenia suggested that the patient was suffering from combined immunodeficiency. The patient was finally diagnosed with delayed onset adenosine deaminase deficiency. Delayed onset adenosine deaminase deficiency is frequently associated with autoimmune diseases, including thyroiditis and cytopenia, both of which were observed in the patient. The ADEM in this patient may be a presentation of delayed onset adenosine deaminase deficiency.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama, Toyama 930-0194, Japan.
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Nakaoka
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Hiromichi
authors.initials: H
authors.lastname: Taneichi
authors.forename: Kazushi
authors.initials: K
authors.lastname: Miya
authors.forename: Xi
authors.initials: X
authors.lastname: Yang
authors.forename: Keiko
authors.initials: K
authors.lastname: Nomura
authors.forename: Shunichiro
authors.initials: S
authors.lastname: Takezaki
authors.forename: Masafumi
authors.initials: M
authors.lastname: Yamada
authors.forename: Osamu
authors.initials: O
authors.lastname: Ohara
authors.forename: Chikako
authors.initials: C
authors.lastname: Kamae
authors.forename: Kohsuke
authors.initials: K
authors.lastname: Imai
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Nonoyama
authors.forename: Taizo
authors.initials: T
authors.lastname: Wada
authors.forename: Akihiro
authors.initials: A
authors.lastname: Yachie
authors.forename: Michael S
authors.initials: MS
authors.lastname: Hershfield
authors.forename: Tadashi
authors.initials: T
authors.lastname: Ariga
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency / Q000276:immunology / Q000378:metabolism; D000361:Agammaglobulinemia / Q000150:complications* / Q000175:diagnosis / Q000276:immunology; D001323:Autoantibodies / Q000097:blood / Q000276:immunology; D002675:Child, Preschool; D004673:Encephalomyelitis, Acute Disseminated / Q000175:diagnosis / Q000209:etiology* / Q000276:immunology; D006801:Humans; D007132:Immunoglobulin Isotypes / Q000097:blood / Q000276:immunology; D018655:Lymphocyte Count; D008279:Magnetic Resonance Imaging; D008297:Male; D059906:Neuroimaging; D016511:Severe Combined Immunodeficiency / Q000150:complications* / Q000175:diagnosis / Q000276:immunology
chemical_list: D001323:Autoantibodies; D007132:Immunoglobulin Isotypes; D000243:Adenosine Deaminase