Gordon M F, Bressman S, Brin M F, de Leon D, Warburton D, Yeboa K, Fahn S
Department of Neurology, Long Island Jewish Medical Center, New Hyde Park, NY 11042, USA.
Mov Disord. 1995 Jul;10(4):496-9. doi: 10.1002/mds.870100415.
This is the first reported case of dystonia with a partial deletion of the long arm (q) of chromosome 18. Neurologic findings in the 18q- syndrome include mental retardation, seizures, nystagmus, incoordination, tremor, and chorea. A 36-year-old woman with an 18q terminal deletion [karyotype 46,XX,del(18)(q22.2)] had hypothyroidism, diabetes mellitus, borderline intelligence, short stature, short neck, sensorineural hearing loss, and sensorimotor axonal neuropathy. Parents' karyotypes were normal. She had had incoordination and writing difficulty since childhood. Posturing and tremor of the head began at age 16, followed by arm tremors. She had jaw deviation and tremor, neck tremor with retrocollis, involuntary pronation of the right arm, coarse postural and severe action tremor, and tight pen grip with dystonic wrist extension on writing. The 18q- syndrome should be added to the list of genetic causes of secondary dystonia. A karyotype analysis should be considered in secondary dystonias, particularly when there are associated features such as short stature and endocrinopathies.
这是首例报告的18号染色体长臂（q）部分缺失所致的肌张力障碍病例。18q-综合征的神经系统表现包括智力发育迟缓、癫痫发作、眼球震颤、共济失调、震颤和舞蹈症。一名36岁女性，核型为46,XX,del(18)(q22.2)，存在18号染色体末端缺失，患有甲状腺功能减退、糖尿病、边缘智力、身材矮小、颈部短、感音神经性听力损失和感觉运动性轴索性神经病。其父母的核型正常。她自幼就有共济失调和书写困难。16岁时开始出现头部姿势异常和震颤，随后出现手臂震颤。她存在下颌偏斜和震颤、颈部震颤伴头后仰、右臂不自主旋前、粗大的姿势性震颤和严重的动作性震颤，书写时紧握笔且手腕呈肌张力障碍性伸展。18q-综合征应被列入继发性肌张力障碍的遗传病因清单。对于继发性肌张力障碍，尤其是伴有身材矮小和内分泌疾病等相关特征时，应考虑进行核型分析。
