Wazir Muhammad Hayyan, Ali Yamna, Mufti Ahmad Z, Ahmad Alvina, Ahmad Hasnain
Internal Medicine, Hayatabad Medical Complex Peshawar, Peshawar, PAK.
Cureus. 2023 Oct 27;15(10):e47812. doi: 10.7759/cureus.47812. eCollection 2023 Oct.
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.
特发性基底节钙化(IBGC),也称为法尔病,是一种罕见的神经系统疾病,其特征是由对称性双侧颅内钙化导致的代谢、生化、神经放射学和神经精神学改变。在大多数情况下,观察到常染色体显性遗传模式和遗传异质性。伴有运动障碍的神经精神症状占该疾病表现的55%。在本报告中,我们介绍了一名42岁巴基斯坦男性的病例,他因突然出现全身性强直性肌肉收缩而就诊于急诊科。他的病史显示有进行性认知障碍,且有口服补钙史。初始实验室检查显示低钙血症,镁和磷酸盐水平正常,而甲状旁腺激素水平较低。发作间期脑电图正常,脑部CT平扫显示基底节、丘脑、脑室周围区域、放射冠、半卵圆中心和小脑齿状核双侧对称致密钙化,提示法尔病。在急诊科给予静脉注射葡萄糖酸钙后,患者症状有所改善。通过实验室检查结果和CT检查中观察到的特征性表现,确诊为伴有相关症状的IBGC。