Abstract:
Idiopathic basal ganglia calcification (IBGC), also known as Fahr\'s disease, is a rare neurological disorder characterized by metabolic, biochemical, neuroradiological, and neuropsychiatric alterations resulting from symmetrical and bilateral intracranial calcifications. In most cases, an autosomal dominant pattern of inheritance and genetic heterogeneity is observed. Neuropsychiatric symptoms with movement disorders account for 55% of the manifestations of this disease. In this report, we present the case of a 42-year-old Pakistani male who presented to the emergency department with a sudden onset of generalized tonic muscle contractions. His medical history revealed progressive cognitive impairment, and he had a history of taking oral calcium supplements. Initial laboratory investigations showed hypocalcemia with normal magnesium and phosphate levels, while his parathyroid hormone levels were low. The interictal electroencephalogram was normal, and CT imaging of the brain without contrast revealed bilateral symmetrical dense calcifications in the basal ganglia, thalami, periventricular area, corona radiata, centrum semiovale, and dentate nucleus of the cerebellum, suggestive of Fahr disease. Intravenous calcium gluconate was administered in the emergency department, leading to an improvement in the patient\'s symptoms. The diagnosis of IBGC with relevant symptoms was confirmed through laboratory values and characteristic features observed in the CT examination.
摘要:
特发性基底节钙化(IBGC),也被称为Fahr病,是一种罕见的以代谢为特征的神经系统疾病,生物化学,神经放射学,和对称和双侧颅内钙化引起的神经精神改变。在大多数情况下,观察到遗传和遗传异质性的常染色体显性模式。运动障碍的神经精神症状占这种疾病表现的55%。在这份报告中,我们介绍了一例42岁的巴基斯坦男性患者,他因突然出现全身性强直肌收缩而到急诊科就诊.他的病史显示进行性认知障碍,他有口服钙补充剂的病史。最初的实验室检查显示低钙血症,镁和磷酸盐水平正常,而他的甲状旁腺激素水平很低.发作间脑电图正常,无对比的脑CT成像显示基底神经节双侧对称致密钙化,thalami,脑室周围面积,日冕辐射,半谷中心,和小脑的齿状核,提示Fahr病。急诊科静脉注射葡萄糖酸钙,导致患者症状的改善。通过CT检查中观察到的实验室值和特征性特征证实了具有相关症状的IBGC的诊断。