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假性甲状旁腺功能减退症,帕金森综合征,无基底节钙化。

Pseudohypoparathyroidism, parkinsonism syndrome, with no basal ganglia calcification.

作者信息

Evans B K, Donley D K

机构信息

Department of Neurology, University of Alabama Medical School, Birmingham 35294.

出版信息

J Neurol Neurosurg Psychiatry. 1988 May;51(5):709-13. doi: 10.1136/jnnp.51.5.709.

Abstract

A 20 year old woman with pseudohypoparathyroidism, Parkinsonism and no basal ganglia calcifications shown by computed tomography is reported. She has typical features of pseudohypoparathyroidism and biochemical evidence of end-organ resistance to parathyroid hormone. She is mentally retarded and has tremor, rigidity, bradykinesia, and stooped posture. The cause of Parkinsonism in pseudohypoparathyroidism is thought to be basal ganglia calcification. This patient must have another pathophysiology, perhaps directly related to a G protein defect, causing impaired neurotransmission.

摘要

报道了一名20岁患有假性甲状旁腺功能减退症、帕金森症且计算机断层扫描显示无基底节钙化的女性。她具有假性甲状旁腺功能减退症的典型特征以及终末器官对甲状旁腺激素抵抗的生化证据。她智力发育迟缓,有震颤、强直、运动迟缓及弯腰姿势。假性甲状旁腺功能减退症中帕金森症的病因被认为是基底节钙化。该患者必有另一种病理生理机制,可能与G蛋白缺陷直接相关,导致神经传递受损。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/40dc/1033082/342255fd212e/jnnpsyc00540-0106-a.jpg

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