Manea M M, Sirbu A, Dragos D, Dobri A M, Sirbu A G, Tuta S
"Carol Davila" University of Medicine and Pharmacy - Neurology, Bucharest, Romania.
National Institute of Neurology and Neurovascular Diseases - Neurology, Bucharest, Romania.
Acta Endocrinol (Buchar). 2020 Jul-Sep;16(3):370-374. doi: 10.4183/aeb.2020.370.
Hypoparathyroidism is a rare endocrine disorder, leading to complications affecting the kidneys, the eyes, the cerebrum (Fahr's syndrome, epilepsy, parkinsonism, cognitive impairment), and the heart.
We present the case of a 24-year old male that presented to our clinic for generalized tonic-clonic seizures increasing in frequency for the last year or so. Furthermore, he was diagnosed with subcapsular cataract of both eyes and had intraocular lens implant surgery 12 years ago. CT scan performed at admission showed calcium deposits on the dentate nuclei, basal ganglia, thalamus, cerebellum and bilateral subcortical fronto-parietal white matter compatible with Fahr's disease. The results of the laboratory tests were normal except for hypocalcemia, hyperphosphoremia and low intact parathormone (iPTH). The patient was diagnosed with primary hypoparathyroidism which led to Fahr's syndrome. The patient was prescribed oral medication including calcium carbonate, calcidiol, magnesium orotate and levetiracetam. The follow-up after three months revealed a seizure free status and normalization of magnesium, calcium, and phosphorus levels.
Fahr's syndrome can be a cause of epileptic seizures and should be considered in the clinical approach to an epileptic patient, especially in children, teenagers, and young adults.
甲状旁腺功能减退是一种罕见的内分泌疾病，可导致影响肾脏、眼睛、大脑（法尔氏综合征、癫痫、帕金森症、认知障碍）和心脏的并发症。
我们报告一例24岁男性病例，该患者因全身强直阵挛性发作频率在过去一年左右增加而前来我院就诊。此外，他12年前被诊断为双眼囊下白内障并接受了人工晶状体植入手术。入院时进行的CT扫描显示齿状核、基底神经节、丘脑、小脑和双侧皮质下额顶叶白质有钙沉积，符合法尔氏病。实验室检查结果除低钙血症、高磷血症和低完整甲状旁腺激素（iPTH）外均正常。该患者被诊断为原发性甲状旁腺功能减退，导致了法尔氏综合征。给该患者开了口服药物，包括碳酸钙、骨化二醇、乳清酸镁和左乙拉西坦。三个月后的随访显示无癫痫发作，镁、钙和磷水平恢复正常。
法尔氏综合征可能是癫痫发作的一个原因，在癫痫患者的临床诊治中应予以考虑，尤其是儿童、青少年和年轻人。
