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Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis

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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.

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Acknowledgments

We thank Mr. Hitoshi Moriuchi and Ms. Chikako Sakai for their excellent technical assistance. This work was supported by a Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology of Japan; and a grant for Research on intractable diseases from the Ministry of Health, Labour, and Welfare of Japan, Tokyo.

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Authors and Affiliations

  1. Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama, Toyama, 930-0194, Japan

    Hideyuki Nakaoka, Hirokazu Kanegane, Hiromichi Taneichi, Kazushi Miya, Xi Yang, Keiko Nomura & Toshio Miyawaki

  2. Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan

    Shunichiro Takezaki, Masafumi Yamada & Tadashi Ariga

  3. Department of Human Genome Research, Kazusa DNA Research Institute, Kisarazu, Japan

    Osamu Ohara

  4. Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan

    Chikako Kamae, Kohsuke Imai & Shigeaki Nonoyama

  5. Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan

    Taizo Wada & Akihiro Yachie

  6. Duke University Medical Center, Durham, NC, USA

    Michael S. Hershfield

Authors
  1. Hideyuki Nakaoka
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  2. Hirokazu Kanegane
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  9. Osamu Ohara
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  13. Taizo Wada
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  14. Akihiro Yachie
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  15. Michael S. Hershfield
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  16. Tadashi Ariga
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  17. Toshio Miyawaki
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Corresponding author

Correspondence to Hirokazu Kanegane.

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Nakaoka, H., Kanegane, H., Taneichi, H. et al. Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. Int J Hematol 95, 692–696 (2012). https://doi.org/10.1007/s12185-012-1055-4

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  • DOI: https://doi.org/10.1007/s12185-012-1055-4

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