Fahr病是一种罕见的遗传性神经系统疾病,其特征是特发性基底神经节和大脑皮质钙化。它表现出广泛的神经系统表现,包括运动功能障碍,感觉缺陷,癫痫发作,头痛,视觉障碍,和运动障碍。我们提供了一名42岁女性的病例报告,该女性向事故和急诊科提出了中风警报。她的主要症状是面部麻木。否则,她很健康。头部的CT扫描显示,双侧基底节钙化明显,而不是缺血性或出血性改变。血液检查显示血清钙正常,正常磷酸盐,甲状旁腺激素水平正常.经进一步调查,她提到她的妹妹在脑部扫描中被诊断出类似的发现。随后,对她的大脑进行了核磁共振扫描,这表明了法赫尔的疾病。目前,没有明确的管理,因此,通常采用基于症状学的保守管理方法。这个案子特别有趣,因为它很罕见,强烈的遗传遗传,并制定管理计划。
Fahr\'s disease is a rare hereditary neurological disorder characterized by idiopathic basal ganglia and cerebral cortex calcifications. It presents a wide range of neurological manifestations, including motor dysfunction, sensory deficits, seizures, headaches, visual disturbances, and movement disorders. We present a
case report of a 42-year-old female who presented to the accident and emergency department with a stroke alert. Her main symptom was left facial numbness. Otherwise, she was fit and well. A CT scan of her head revealed significant bilateral basal ganglia calcifications rather than ischaemic or haemorrhagic changes. Blood tests showed normal serum calcium, normal phosphate, and normal parathyroid hormone levels. Upon further inquiry, she mentioned that her sister had been diagnosed with similar findings on a brain scan. Subsequently, an MRI scan of her brain was performed, which suggested Fahr\'s disease. Currently, there is no definitive management available, so a conservative management approach is usually employed based on symptomatology. This
case is particularly interesting due to its rarity, strong genetic inheritance, and the development of a management plan.