TY - JOUR
T1 - Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis
AU - Nakaoka, Hideyuki
AU - Kanegane, Hirokazu
AU - Taneichi, Hiromichi
AU - Miya, Kazushi
AU - Yang, Xi
AU - Nomura, Keiko
AU - Takezaki, Shunichiro
AU - Yamada, Masafumi
AU - Ohara, Osamu
AU - Kamae, Chikako
AU - Imai, Kohsuke
AU - Nonoyama, Shigeaki
AU - Wada, Taizo
AU - Yachie, Akihiro
AU - Hershfield, Michael S.
AU - Ariga, Tadashi
AU - Miyawaki, Toshio
N1 - Funding Information:
Acknowledgments We thank Mr. Hitoshi Moriuchi and Ms. Chi-kako 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.
PY - 2012/6
Y1 - 2012/6
N2 - 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 mechanismmay 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.
AB - 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 mechanismmay 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.
KW - Acute disseminated encephalomyelitis
KW - Adenosine deaminase
KW - Bronchiectasia
KW - Delayed onset
KW - Lymphopenia
UR - http://www.scopus.com/inward/record.url?scp=84865014056&partnerID=8YFLogxK
U2 - 10.1007/s12185-012-1055-4
DO - 10.1007/s12185-012-1055-4
M3 - 学術論文
C2 - 22447032
AN - SCOPUS:84865014056
SN - 0925-5710
VL - 95
SP - 692
EP - 696
JO - International Journal of Hematology
JF - International Journal of Hematology
IS - 6
ER -