G Jithesh, Bansal Rifika, Ajmal Mohammed, Gupta Paras, Pathania Monika
Internal Medicine, All India Institute of Medical Sciences, Rishikesh, IND.
General Medicine, All India Institute of Medical Sciences, Rishikesh, IND.
Cureus. 2022 Feb 14;14(2):e22189. doi: 10.7759/cureus.22189. eCollection 2022 Feb.
Fahr's syndrome is a neurodegenerative disorder characterized by abnormal deposition of calcium in the brain, especially in basal ganglia. The term Fahr's disease is used when primary familial brain calcification is present, and the term Fahr's syndrome is used for secondary causes. Our patient is a 35-year-old male who presented to our hospital with complaints of two episodes of generalized tonic-clonic seizures. He had a history of recurrent episodes of seizures since the age of 15 and they all were generalized tonic-clonic seizures. He did not have a family his-tory of epilepsy. Lab investigations showed a normal hemogram, and liver and renal function were within normal limits. Serum electrolyte levels showed hypocalcemia, but other electrolyte levels were normal. He had low parathyroid hormone levels and normal levels of vitamin D. Brain imaging studies with non-contrast CT and a contrast-enhanced MRI showed bilaterally symmetrical dense calcifications. The etiology in our patient was the primary hypoparathyroidism and was treated accordingly. He reported symptomatic improvement with treatment and had no episodes of seizures after the commencement of the treatment. So, in cases of Fahr's syndrome, treatable etiologies must be ruled out as they can delay the progression of the disease.
法尔氏综合征是一种神经退行性疾病,其特征是大脑中尤其是基底神经节出现钙异常沉积。当存在原发性家族性脑钙化时使用“法尔氏病”这一术语,而“法尔氏综合征”用于继发性病因。我们的患者是一名35岁男性,因两次全身性强直阵挛发作前来我院就诊。他自15岁起就有癫痫反复发作史,均为全身性强直阵挛发作。他没有癫痫家族史。实验室检查显示血常规正常,肝肾功能在正常范围内。血清电解质水平显示低钙血症,但其他电解质水平正常。他的甲状旁腺激素水平低,维生素D水平正常。非增强CT和增强MRI脑部成像研究显示双侧对称性致密钙化。我们患者的病因是原发性甲状旁腺功能减退,并据此进行了治疗。他报告治疗后症状有所改善,治疗开始后没有癫痫发作。所以,在法尔氏综合征病例中,必须排除可治疗的病因,因为它们可能会延缓疾病进展。