中文摘要：

目的：探究1例有音乐指挥才能的唐氏综合征患者的脑结构和认知功能特点，以期有助于进一步理解唐氏综合征的病理机制。方法：以患有唐氏综合征的知名音乐指挥H先生为研究对象，进行染色体检查、神经学检查、计算机断层扫描（CT）检查和磁共振成像（MRI）检查，用瑞文氏智商测试量表和童话故事测验（FTT）进行心理行为测查，由音乐专业人士评价其音乐指挥能力（范围0～10分，10分代表相应能力最高。包括音乐节奏感、音乐的情绪表现力及对观众的感染力）。详细了解其成长史。结果：H先生被证实是唐氏综合征患者；神经学检查除视力较差外无特殊异常；脑结构成像检查显示其小脑萎缩、侧脑室扩张、仓白球区钙化。瑞文氏智商测试得分33分，FTT的T分为50分。H先生的音乐节奏感（8．5±1．2）分、音乐的情绪表现力（8．2±1．2）分、对观众的感染力（9．3±0．8）分。经H先生从小在某乐团的环境中成长，很小就学指挥音乐。结论：H先生脑结构发育不良、智商低，但从小经过音乐训练，其音乐指挥才能突出。提示早期训练能使唐氏综合征患者某方面才能得到显著提高。

英文摘要：

Objective： To explore the brain structure and cognitive characteristics of a Down＇s syndrome pa- tient with music conducting ability, and to further understand the pathological mechanism of Down＇ s syndrome. Methods： Mr. H was a famous music conductor with Down＇s syndrome. He was tested with chromosome examination, neurological examination, Computed Tomography （CT） examination and Magnetic Resonance Imaging （MRI） examination. His psychological behavior was checked with the Raven＇ s Standard Progressive Matrices and Fairy Tale Test. His music conducting abilities, including rhythmical sense, ability of music emotion expression and the ability to affect audience, were evaluated by music professionals （the scores ranged from 0 - 10, 10 represented the highest corresponding ability）. His detailed developing history was asked and recorded. Results： It was con-firmed that Mr. H presented a trisomy of the 21 st chromosome. Neurological examination could not found any other abnormality except his weak sight. Imaging examinations of brain structure demonstrated cerebellum atrophy, ventri- cle dilation and calcification in the area of globus pallidus. He scored 33 in the Raven＇s Standard Progressive Matri- ces, and 50 in the Fairy Tale Test. He scored （8.5 ± 1.2） in rhythmical sense, （8. 2± 1.2） in music emotion ex- pression, and （9. 3±0. 8） in the ability to affect audience. He grew up in one symphonic orchestra and learned to conduct at very early stage. Conclusion： Mr. H suffers from Down＇s syndrome, and has brain dysplasia with mental retardation. He has outstanding conducting ability after receiving music training at the early stage. It suggests that the patients with Down＇s syndrome could have improved performances in some aspects if trained early.