Familial Spinal Xanthomatosis with Sitosterolemia.
スポンサーリンク
概要
- 論文の詳細を見る
A family with multiple spinal xanthomas and sitosterolemia is described. A 48-year-old woman presented with paraplegia due to multiple intradural extramedullary tumors. The patient also showed marked tendon xanthomas and analysis of sterol composition in both plasma and the xanthoma established the diagnosis of the rare inherited metabolic disease, sitosterolemia and xanthomatosis. Two other siblings in the family presented with marked tendon xanthomas and coronary atherosclerosis, but did not show any neurological signs or symptoms. Magnetic resonance imaging (MRI) study revealed multiple intradural extramedullary tumors in spinal canals of the proband and her sister, but not in the other affected sibling (brother). This is the first report of familial occurrence of multiple extramedullary spinal tumors due to the inherited metabolic abnormality.(Internal Medicine 31 : 1038-1042, 1992)
- 社団法人 日本内科学会の論文
著者
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YASUDA Hitoshi
the Third Department of Medicine, Shiga University of Medical Science
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Hidaka Hideki
The Third Department Of Medicine Shigu University Of Medical Science
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Kikkawa Ryuichi
The Third Department Of Medicine Shiga University Of Medical Science
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Okabe Hidetoshi
The Department Of Central Laboratory Shiga University Of Medical Science
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SHIGETA YUKIO
The Third Department of Medicine, Shiga University of Medical Science
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KOBAYASHI MASASHI
The Third Department of Medicine, Shiga University of Medical Science
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Takahashi Masayuki
The First Department Of Internal Medicine Shiga University Of Medical Science
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MATSUMOTO Keiji
the Department of Orthopedic Surgery, Shiga University of Medical Science
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OKABE Hidetoshi
the Department of Clinical Pathology, Shiga University of Medical Science
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HATANAKA Ikuo
the Third Department of Medicine, Shiga University of Medical Science
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ITOH Ryuta
the Department of Radiology, Shiga University of Medical Science
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HIDAKA Hideki
the Third Department of Medicine, Shiga University of Medical Science
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- 糖輸送 (促通拡散) のインスリンによる調節
- Familial Spinal Xanthomatosis with Sitosterolemia.