Mishra Ashish, Dawadi Bipin, Neupane Nischal, Khanal Sunil Babu, Neupane Narayan Prasad, Mishra Aryan, Chaudhary Bikash
Maharajgunj Medical Campus, Tribhuvan University Institute of Medicine, Kathmandu, Nepal.
Department of Internal Medicine, Tribhuvan University Teaching Hospital, Kathmandu, Nepal.
Ann Med Surg (Lond). 2025 Mar 20;87(4):2444-2448. doi: 10.1097/MS9.0000000000003151. eCollection 2025 Apr.
Fahr's disease, or bilateral striopallidodentate calcinosis, is a rare autosomal dominant neurological disorder characterized by bilateral symmetrical calcifications in the basal ganglia, thalamus, hippocampus, dentate nucleus, cerebral cortex, and cerebellar subcortical white matter. Typically presenting with cognitive, psychiatric, and extrapyramidal symptoms in middle age, its presentation as an acute ischemic stroke is exceedingly rare. This case report presents this unusual occurrence.
A 32-year-old female presented with sudden onset weakness in her left lower limb, slurred speech, and facial deviation to the right. Over the next 2 days, the weakness extended to her left upper limb. Neurological examination revealed left-sided lower motor neuron lesion of the facial nerve, upper motor neuron signs, mild left-sided motor weakness, and cerebellar signs. Non-contrast computed tomography (CT) and magnetic resonance imaging (MRI) imaging showed extensive symmetrical calcifications in the basal ganglia, thalamus, dentate nucleus, and other deep gray matter structures, along with acute ischemic changes in the right corona radiata and internal capsule. All metabolic and endocrine evaluations were normal.
Fahr's disease is associated with abnormal calcium deposition in the brain. The underlying mechanisms for the calcifications remain unclear but may involve disrupted calcium metabolism and alterations in the blood-brain barrier, contributing to a cycle of vascular injury. The coexistence of acute ischemic stroke in this context is rare and may result from microinfarcts due to calcification in small vessels.
This case illustrates that acute ischemic stroke can occur as a manifestation of Fahr's disease. CT scan plays vital role in establishing diagnosis by revealing the symmetrical calcification pattern in the basal ganglia, thalami, and cerebellar dentate nucleus. Establishing the association between Fahr's disease and cerebrovascular disease warrants further studies.
法尔氏病，即双侧纹状体苍白球齿状核钙化症，是一种罕见的常染色体显性神经疾病，其特征为基底神经节、丘脑、海马体、齿状核、大脑皮层和小脑皮质下白质出现双侧对称性钙化。该病通常在中年时出现认知、精神和锥体外系症状，而表现为急性缺血性中风极为罕见。本病例报告展示了这种不寻常的情况。
一名32岁女性，出现左下肢突发无力、言语含糊及面部向右侧偏斜。在接下来的2天里，无力扩展至左上肢。神经系统检查显示左侧面神经下运动神经元损伤、上运动神经元体征、轻度左侧运动无力及小脑体征。非增强计算机断层扫描（CT）和磁共振成像（MRI）显示基底神经节、丘脑、齿状核及其他深部灰质结构广泛对称钙化，同时右侧放射冠和内囊有急性缺血改变。所有代谢和内分泌评估均正常。
法尔氏病与大脑中异常钙沉积有关。钙化的潜在机制尚不清楚，但可能涉及钙代谢紊乱和血脑屏障改变，导致血管损伤循环。在这种情况下急性缺血性中风并存很罕见，可能是由于小血管钙化导致的微梗死。
本病例表明急性缺血性中风可作为法尔氏病的一种表现。CT扫描通过显示基底神经节、丘脑和小脑齿状核的对称钙化模式在确立诊断中起关键作用。确定法尔氏病与脑血管疾病之间的关联值得进一步研究。
