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Japanese

Two autopsy cases of Menkes, Kinky Hair Disease Michio AKIMA 1 , Hiroko NONAKA 1 , Masayuki SENZUI 1 , Yoshiaki KITAZAWA 1 , Shigeo ICHIMORI 1 , Tsugutoshi AOKI 2 , Heiwa KANEKAWA 3 1Department of Pathology, Toho University School of Medicine 2Department of Pediatrics, Toho University School of Medicine 3Saitama Central Social Insurance Hospital pp.427-439
Published Date 1978/6/10
DOI https://doi.org/10.11477/mf.1431904860
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Abstract

 Kinky hair disease was first described by Menkes et al. (1962), and it is considered as an autosomal recessive disorder with the characteristics of unusual hair, seizures, psychomotor retardation, growth failure and early death. Anatomical ex-amination of the central nervous system represents diffuse cortical degeneration, myeline palor and cerebellar atrophy with a peculiar Purkinje cell change-"somal sprout" formation. Tortuosity of small arteries with alteration of the elastic lamina is also evident. Danks et al.


Copyright © 1978, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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