JaLCDOI 10.18926/AMO/31080
FullText URL fulltext.pdf
Author Ozaki, Hiroshi| Mizutani, Machiko| Hayashi, Hiromitsu| Oka, Eiji| Ohtahara, Shunsuke| Kimoto, Hiroshi| Tanaka, Toshio| Hakozaki, Hand| Takahashi, Kiyoshi| Suzuki, Yoshiyuki|
Abstract <p>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.</p>
Keywords Faeber's disease shpingolipid metablism infancy
Amo Type Article
Published Date 1978-04
Publication Title Acta Medica Okayama
Volume volume32
Issue issue1
Publisher Okayama University Medical School
Start Page 69
End Page 79
ISSN 0386-300X
NCID AA00508441
Content Type Journal Article
language 英語
File Version publisher
Refereed True
PubMed ID 148836
NAID 120002313209