Suzuki Y, Watanabe H, Haeno S, Omori T, Hiramatsu R, Asada M, Tanaka F, Maeda T, Okada M, Suzuki T
Department of Clinical Genetics, Medical Institute of Bioregulation, Kyushu University, Beppu.
Intern Med. 1995 Nov;34(11):1071-3. doi: 10.2169/internalmedicine.34.1071.
A case of hypoparathyroidism accompanied with Turner's syndrome is reported. On admission, a 44-year-old woman had facial dystonia, deafness, and primary amenorrhea. Laboratory examinations showed a decrease in serum PTH and mosaicism of 45,X and 46,XX(6:34). A brain CT revealed marked calcification in the basal ganglia, cerebellum and periventricular area. Antiparkinsonian drugs were found to be effective for the dystonia. This case therefore suggests that some relationship may exist between intracranial calcification and Turner's syndrome.
报告了一例伴有特纳综合征的甲状旁腺功能减退症病例。入院时,一名44岁女性患有面部肌张力障碍、耳聋和原发性闭经。实验室检查显示血清甲状旁腺激素降低以及45,X和46,XX(6:34)的嵌合体。脑部CT显示基底神经节、小脑和脑室周围区域有明显钙化。发现抗帕金森病药物对肌张力障碍有效。因此,该病例提示颅内钙化与特纳综合征之间可能存在某种关系。