A case of De Sanctis-Cacchione syndrome with increased spontaneous SCEs.

DOI

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Other Title
  • Ｓｐｏｎｔａｎｅｏｕｓ　ＳＣＥｓひん度の増加が認められたＤｅ　Ｓａｎｃｔｉｓ‐Ｃａｃｃｈｉｏｎｅ症候群の１例

Abstract

A Case of De Sanctis-Cacchione syndrome, a syndrome of xeroderma pigmentosum with neurological manifestations, was reported. A 21-year-old woman developed sun sensitive skin lesions at the age of ten days. At the age of one year, a diagnosis of xeroderma pigmentosum was made because of mental retardation and skin lesions. Since the age of 10, she had been aware of hearing loss. During the past 8 years, her gait has increasingly worsened. On examination she appeared severely retarded in mentation. There was severe bilateral deafness. She could speak a few words. There was diffuse muscle weakness with foot deformity, ataxia and positive Babinski's sign. Because UDS measured by autoradiography showed less than 2%, a diagnosis of De Sanctis-Cacchione syndrome was made. CT showed moderate dilatation of ventricles, marked bilateral temporal lobe atrophy and diffuse cerebral cortical atrophy. The brain stem appeared small. Cerebellar atrophy was not apparent. In chromosome analysis, the incidences of spontaneous SCEs measured by BrdU-AG method were higher than in normal cells.<br>Conclusion: Our results suggested that in a case of DSC syndrome the incidences of spontaneous SCEs were higher. Further studies are necessary to clarify whether these resuts are true or not.

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Details 詳細情報について

  • CRID
    1390001206314792192
  • NII Article ID
    130004313359
  • DOI
    10.11261/iryo1946.38.1186
  • ISSN
    18848729
    00211699
  • Text Lang
    ja
  • Data Source
    • JaLC
    • CiNii Articles
  • Abstract License Flag
    Disallowed

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