Ozisik H, Yürekli B S, Tuncel R, Ozdemir N, Baklaci M, Ekmekci O, Saygili F
Ege University, Faculty of Medicine, Dept. of Endocrinology, Izmir, Turkey.
Ege University, Faculty of Medicine, Dept. of Neurology, Izmir, Turkey.
Acta Endocrinol (Buchar). 2020 Jan-Mar;16(1):86-89. doi: 10.4183/aeb.2020.86.
Fahr's syndrome is an infrequent disorder characterized by bilateral symmetrical calcification of basal ganglia and the cerebral cortex. It can be seen genetic, idiopathic, or secondary to endocrine diseases. This disease is related to different metabolic disorders particularly with diseases of the parathyroid gland.
CASE 1: A 63-year-old female patient applied to our clinic due to having hypoparathyroidism with bilateral basal ganglia calcification in head computed tomography(CT). She had subtotal thyroidectomy 25 years ago. In the neurological examination, mild symmetrical parkinsonism was determined. In laboratory examination Ca:8 mg/dL (8.6-10.2), P:5.1 mg/dL (2.3-4.5), PTH:9.53 pg/mL (15-65) were detected. Calcitriol 0.25 μ/day was added to her treatment. Her parkinsonism disappeared after the treatment.
CASE 2: A 49-year-old male patient was consulted when he was admitted to the department of neurology in our hospital. The physical examination demonstrated the characteristics of Albright's hereditary osteodystrophy. The neurological examination shows bilateral symmetrical bradykinesia, dysphagia, and moderate dysarthria. In the laboratory examination PTH: 46.5 ng/L(15-65), Ca:8.6 mg/dL (8.6-10.2), P:2.7 mg/dL (2.3-4.5) were detected and were all within the normal ranges. Consequently, pseudopseudohypoparathyroidism was decided as a diagnosis. G protein alpha subunit mutation (Gsα) was not detected due to technical limitations.
When a patient is diagnosed as Fahr's syndrome, we should keep in mind parathyroid disorders. Fahr's syndrome must be evaluated in patients showing intracranial calcification accompanied by parathyroid diseases.
法尔氏综合征是一种罕见的疾病,其特征为基底神经节和大脑皮质的双侧对称性钙化。它可见于遗传性、特发性或继发于内分泌疾病。这种疾病与不同的代谢紊乱有关,尤其是与甲状旁腺疾病有关。
病例1:一名63岁女性患者因头部计算机断层扫描(CT)显示双侧基底神经节钙化伴甲状旁腺功能减退而前来我院就诊。她25年前接受了甲状腺次全切除术。神经系统检查发现轻度对称性帕金森综合征。实验室检查发现血钙8mg/dL(8.6 - 10.2),血磷5.1mg/dL(2.3 - 4.5),甲状旁腺激素9.53pg/mL(15 - 65)。她的治疗中添加了骨化三醇0.25μg/天。治疗后她的帕金森综合征消失。
病例2:一名49岁男性患者在我院神经内科住院时前来咨询。体格检查显示为奥尔布赖特遗传性骨营养不良的特征。神经系统检查显示双侧对称性运动迟缓、吞咽困难和中度构音障碍。实验室检查发现甲状旁腺激素46.5ng/L(15 - 65),血钙8.6mg/dL(8.6 - 10.2),血磷2.7mg/dL(2.3 - 4.5),均在正常范围内。因此,诊断为假性假性甲状旁腺功能减退。由于技术限制,未检测到G蛋白α亚基突变(Gsα)。
当患者被诊断为法尔氏综合征时,我们应考虑甲状旁腺疾病。对于出现颅内钙化并伴有甲状旁腺疾病的患者,必须评估是否为法尔氏综合征。