雑誌文献を検索します。書籍を検索する際には「書籍検索」を選択してください。

検索

書誌情報 詳細検索 by 医中誌

Japanese

FABRY'S DISEASE WITH MALOCCLUSION AND ACROMEGALIC-APPEARANCE : CLINICAL AND ELECTROMICROSCOPIC STUDIES Naoyuki Tsukada 1 , Naonori Hanu 1 , Kimio Oguchi 1 , Nobuo Yanagisawa 1 , Hiroshi Tsukagoshi 1 , Hiroshi Hattori 2 1Department of Medicine (Neurology), Faculty of Medicine, Shinshu University 2Department of Biochemistry, Institute of Adaptation Medicine, Faculty of Medicine, Shinshu University pp.311-319
Published Date 1980/3/1
DOI https://doi.org/10.11477/mf.1406204560
  • Abstract
  • Look Inside

The present case is a 24-years-old man who complained painful attack with numbness in both bilateral shoulder regions and distal extremities. This pain was increased by the stimulations of sun light and heat. On physical examinations, he had an acromegalic-like-appearance, thick mustache and beard. Malocclusion of the teeth which showed the broad space was found. And skin lesion was not found out. Hypesthesia in bilateral distal ex-tremities was revealed and no other abnormal neurological findings were observed. He was made diagnosis of Fabry's disease by laboratory exami-nations which were α-galactosidase deficiencyanalysed in leukocytes, increased ceramide tri-hexosides demonstrated in urinary sedment and electron microscopic findings in the biopsy of the skin and sural nerve. His mother had and decreased α-galactosidase activity which levels showed be-tween normal and patient and was speculated to be a carrier. On an electron microscopy, "Zebra body"was observed in fibroblasts, capillary endo-thelial cells, their pericytes, prineural and Schwann cells. Many of them had a distinct limiting membrane and laminal structure with irregular alterations of light and dark zone. In the cyto-plasma of Schwann cells, there were many rough endplasmic reticulums which were located parallel with alignment and seemed to show the loosed laminal structure with the unclear limited membrane. Occationally, fusions between irregular laminal structure and rough endoplasmic reticulum were also observed. These findings could be indicated that the formation of Zebra body is related to rough endoplasmic reticulum, because laminal structure which discribed above is corresponded to pre-Zebra body. In the cytoplasma of the prineural cells, recket-like structure which was seen in histiocytosis X were occasionally observed.


Copyright © 1980, Igaku-Shoin Ltd. All rights reserved.

基本情報

電子版ISSN 2185-405X 印刷版ISSN 0006-8969 医学書院

関連文献

  • Fabry病 金澤 一郎 , 宮武 正 医学書院 Brain and Nerve 脳と神経
    25巻 8号 (1973年8月)
    pp.983-986
    • 有料閲覧
  • Fabry病 土井 研人 南江堂 臨床雑誌内科
    113巻 6号 (2014年6月)
    pp.1174-1175
    • 有料閲覧
  • Fabry病 宇山 英一郎 医学書院 BRAIN and NERVE
    60巻 11号 (2008年11月)
    pp.1235-1244
    • 有料閲覧
  • Fabry病 金田 眞理 協和企画 皮膚病診療
    39巻 13号 (2017年12月)
    pp.119
    • 有料閲覧
  • Fabry病 小林 正久 診断と治療社 小児科診療
    86巻 13号 (2023年4月)
    pp.539-540
    • 有料閲覧
もっと見る

文献を共有