| 小儿肝豆状核变性(附误诊病例分析) |
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| 引用本文： | 王秋艳,姜沧海. 小儿肝豆状核变性(附误诊病例分析)[J]. 西安交通大学学报(医学版), 1982, 0(4) |
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| 作者姓名： | 王秋艳 姜沧海 |
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| 作者单位： | 西安医学院第一附属医院儿科(王秋艳)，西安医学院第一附属医院神经科(姜沧海) |
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| 摘 要： | 本文报告了我院22年来收治的儿童时期少见而极易误诊的一种常染色体隐性遗传病。对12例误诊病例作了分析,全部年龄均在14岁以下,其中男女各7例,最小年龄为6岁,同胞同时患病者有两个家族。其症状和早期表现是多样的,包括各种椎体外系远动障碍、精神症状、“肝炎”、“肝硬变”、“肾炎”、“癫痫”以及舞蹈病等。本文着重介绍了四例误诊之典型病例,并对误诊情况及诊断方面的注意作了探讨。
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Hepatolenticular Degeneration in Children——Analysis of 12 Misdiagnosed Cases |
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| Abstract: | The present paper reports 14 cases of hepatolenticular degeneration inchildren which is caused by autosomal recessive inheritante. An analysisof 12 cases was made. Our 14 patients were below 14 years of age (7males and 7 females) and the youngest was 6 years old. In two families,there were two or more patients amog siblings. They had various symptomsand early manifestations, such as psychical symptoms, "hepatitis ", "livercirrhosis ", "nephritis", "epilepsy", "chorea" and so on. Four misdiagnosedtypical cases and diagnostic main points were discussed. |
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