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ID 31080
フルテキストURL
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著者
Ozaki, Hiroshi Okayama University
Mizutani, Machiko Okayama University
Hayashi, Hiromitsu Okayama University
Oka, Eiji Okayama University
Ohtahara, Shunsuke Okayama University
Kimoto, Hiroshi Okayama University
Tanaka, Toshio Okayama University
Hakozaki, Hand Fukushima Medical College
Takahashi, Kiyoshi Fukushima Medical College
Suzuki, Yoshiyuki University of Tokyo
抄録

We report the first case in Japan, i.e., the first case among oriental subject of Farber's disease. This is a rare disorder of lipid metabolism in infancy subsequent to a genetically-determined defect in ceramide degradation. Main features are characterized clinically by hoarseness, joint swelling, subcutaneous nodules and retarded psychomotor development. Lipid analysis and pathological investigation on the material obtained from a subcutaneous nodule confirmed clearly the presence of ceramide and intracytoplasmic inclusion bodies characteristic for Farber's disease. In this case, we experienced also corneal opacity and striking abnormalities in electroencephalogram, which have apparently not been noticed in the 17 cases hitherto reported.

キーワード
Faeber's disease
shpingolipid metablism
infancy
発行日
1978-04
出版物タイトル
Acta Medica Okayama
32巻
1号
出版者
Okayama University Medical School
ISSN
0386-300X
NCID
AA00508441
資料タイプ
学術雑誌論文
言語
English
論文のバージョン
publisher
査読
有り
PubMed ID
Amo Type
Article
Submission Path
amo/vol32/iss1/7