JaLCDOI 10.18926/AMO/31080
フルテキストURL fulltext.pdf
著者 Ozaki, Hiroshi| Mizutani, Machiko| Hayashi, Hiromitsu| Oka, Eiji| Ohtahara, Shunsuke| Kimoto, Hiroshi| Tanaka, Toshio| Hakozaki, Hand| Takahashi, Kiyoshi| Suzuki, Yoshiyuki|
抄録 <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>
キーワード Faeber's disease shpingolipid metablism infancy
Amo Type Article
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
開始ページ 69
終了ページ 79
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 148836
NAID 120002313209
JaLCDOI 10.18926/AMO/30779
フルテキストURL fulltext.pdf
著者 Sanada, Satoshi| Murakami, Nagako| Horiuchi, Isaac| Oka, Eiji| Ohtahara, Shunsuke|
抄録 <p>Using a transcranial Doppler blood flowmeter, the blood flow velocity (BFV) ratio of the middle cerebral artery (MCA) to the basilar artery (BA) was investigated in 12 patients with severe motor and intellectual disability syndrome. The BFV of the MCA was also investigated in 58 handicapped children, classified according to the severity of their motor and intellectual disability. The ratio of the MCA to the BA was lower by 2 SD from the mean of our previously reported standard value in 8 out of the 12 cases with severe motor and intellectual disability syndrome, suggesting a more profound decrease in the level of brain activity in the MCA area than that of the BA area. The BFV of the MCA mainly decreased in cases belonging to the category of the most severe motor disability (bed-ridden). Hence, it is suggested that motor disability is the main factor related to the decrease in the BFV of the MCA.</p>
キーワード transcranial blood flowmetry blood flow velocity handicapped children severe motor and intellectual disability syndrome
Amo Type Article
発行日 1997-04
出版物タイトル Acta Medica Okayama
51巻
2号
出版者 Okayama University Medical School
開始ページ 111
終了ページ 113
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 9142349
Web of Science KeyUT A1997WX19600009