Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Nakaoka, H; Kanegane, H; Taneichi, H; Miya, K; Yang, X; Nomura, K; Takezaki, S; Yamada, M; Ohara, O; Kamae, C; Imai, K; Nonoyama, S; Wada, T; Yachie, A; Hershfield, MS; Ariga, T; Miyawaki, T

Published Date

  • June 2012

Published In

Volume / Issue

  • 95 / 6

Start / End Page

  • 692 - 696

PubMed ID

  • 22447032

Electronic International Standard Serial Number (EISSN)

  • 1865-3774

Digital Object Identifier (DOI)

  • 10.1007/s12185-012-1055-4


  • eng

Conference Location

  • Japan