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法尔综合征合并甲状旁腺功能减退症:一例报告

Fahr's syndrome associated with hypoparathyroidism: A case report.

作者信息

Sarna Mukesh Kumar, Goel Pallaavi, Bhargava Varun, Parakh Rishabh

机构信息

Department of General Medicine, Mahatma Gandhi Medical College and Hospital, Jaipur, India.

Mahatma Gandhi University of Medical Science & Technology, Jaipur, India.

出版信息

J R Coll Physicians Edinb. 2023 Dec;53(4):283-287. doi: 10.1177/14782715231210606. Epub 2023 Nov 7.

Abstract

Fahr's syndrome affects fewer than 1 in 100,000 people. It is an inherited neurological disorder, which is distinguished by atypical calcium deposition in the movement-controlling areas of brain, that is thalamus, dentate nucleus, basal ganglia, cerebellum, cerebral cortex, hippocampus and subcortical white matter. The majority of patients often experience extrapyramidal symptoms, cerebellar signs, speech difficulty, dementia and neuropsychiatric manifestations. This disease's molecular genetics have not been thoroughly investigated. Typically, young to middle-aged adults are affected though basal ganglia calcification in hypoparathyroidism is quite uncommon. Laboratory results and radiographic brain imaging helps in reaching the diagnosis. The treatment is mainly symptomatic. We present a case of Fahr's syndrome associated with hypoparathyroidism.

摘要

Fahr综合征在每10万人中发病少于1人。它是一种遗传性神经疾病,其特征是大脑运动控制区域,即丘脑、齿状核、基底神经节、小脑、大脑皮层、海马体和皮质下白质出现非典型钙沉积。大多数患者常出现锥体外系症状、小脑体征、言语困难、痴呆和神经精神表现。这种疾病的分子遗传学尚未得到彻底研究。通常,中青年受影响,不过甲状旁腺功能减退症伴基底神经节钙化相当罕见。实验室检查结果和脑部影像学检查有助于做出诊断。治疗主要是对症治疗。我们报告一例与甲状旁腺功能减退症相关的Fahr综合征病例。

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