青少年型亨廷顿病
Juvenile Huntington disease.
作者信息
Geevasinga Nimeshan, Richards Fiona H, Jones Kristi J, Ryan Monique M
机构信息
T.Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, NSW, Australia.
出版信息
J Paediatr Child Health. 2006 Sep;42(9):552-4. doi: 10.1111/j.1440-1754.2006.00921.x.
Huntington disease (HD) is a dominantly inherited neurodegenerative disorder related to expansion of a triplet repeat sequence in the huntington gene on chromosome 4. Adult HD usually presents with chorea and personality changes. Juvenile HD is far less common and presents with parkinsonism, dystonia and seizures. We report a case of juvenile HD, showing extreme anticipation, in which diagnosis was delayed because of failure to recognise the significance of the family history and the characteristic clinical and radiologic features of this condition.
亨廷顿舞蹈症（HD）是一种常染色体显性遗传的神经退行性疾病，与4号染色体上亨廷顿基因中的三联体重复序列扩增有关。成年HD通常表现为舞蹈症和性格改变。青少年HD则较为少见，表现为帕金森症、肌张力障碍和癫痫发作。我们报告了一例青少年HD病例，呈现出显著的遗传早现现象，由于未能认识到家族史以及该疾病特征性临床和影像学特征的重要性，诊断被延误。
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