Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
An Adult Case of Cockayne Syndrome without Sclerotic Angiopathy
Toshihiko INDUE, Nobuya SANO, Yuji ITO, Yasuyuki MATSUZAKI, Yasuhiro OKAUCHI, Hideki KONDO, Noriaki HORIUCHI, Katsuyuki NAKAO, Masayasu IWATA
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Keywords: autosomal recessive disorder, progeria, cachectic dwarfism, intracranial calcifications, photosensitivity
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1997 Volume 36 Issue 8 Pages 565-570

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Abstract

We report an autopsy case of Cockayne syndrome (CS). A 40-year-old Japanese woman was admitted to our hospital for cachexia. She had displayed the striking features of CS, including dwarfism, mental retardation, neural deafness, ataxia, intracranial calcifications, and progeria since her childhood. Endocrinological examinations suggested normal pituitary function and a disorder of the hypothalamus or the cerebrum. She died of acute pneumonia at the age of 42. Autopsy findings showed typical abnormalities in the central nervous system compatible with CS; however, no atherosclerotic change was observed in the systemic arteries.
(Internal Medicine 36: 565-570, 1997)

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