Ｓｐｏｎｔａｎｅｏｕｓ ＳＣＥｓひん度の増加が認められたＤｅ Ｓａｎｃｔｉｓ‐Ｃａｃｃｈｉｏｎｅ症候群の１例
書誌事項
- タイトル別名
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- A case of De Sanctis-Cacchione syndrome with increased spontaneous SCEs.
抄録
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.
収録刊行物
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- 医療
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医療 38 (12), 1186-1189, 1984
一般社団法人 国立医療学会
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詳細情報 詳細情報について
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- CRID
- 1390001206314792192
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- NII論文ID
- 130004313359
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- ISSN
- 18848729
- 00211699
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- 本文言語コード
- ja
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- データソース種別
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- JaLC
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可