Adhikari Shraddha, Bhate Archana, Patil Smita, Kalawatia Mihit, Sangoi Ravi, Palande Amisha, Kamble Parijat, Mittal Gaurav
General Medicine, Dr. D. Y. Patil Medical College, Navi Mumbai, IND.
Medicine, Rajarshee Chatrapati Shahu Maharaj Government Medical College, Kolhapur, IND.
Cureus. 2023 Dec 25;15(12):e51065. doi: 10.7759/cureus.51065. eCollection 2023 Dec.
Fahr's disease is an exceptionally rare and complex neurological disorder characterized by abnormal calcium deposition in the basal ganglia and cerebral cortex. This case report presents a 27-year-old female with Fahr's disease, showcasing the striking clinical diversity and challenging diagnostic landscape associated with this condition. Despite its rarity, Fahr's disease can have a profound impact on patients, manifesting as a spectrum of neurological symptoms, cognitive deficits, and motor impairment. Recent advancements in research have illuminated genetic aspects, offering potential avenues for enhanced diagnostic accuracy and therapeutic interventions. Treatment for Fahr's disease remains primarily supportive, targeting neuropsychiatric symptoms and seizure prophylaxis. Our case highlights the unique presentation of a young female patient with Fahr's disease, challenging conventional demographic profiles and emphasizing the need for individualized patient assessments. The utilization of non-contrast CT scans in diagnosis underscores the importance of appropriate imaging techniques, given the diverse clinical manifestations of this condition. This case adds to the growing understanding of Fahr's disease, emphasizing its clinical heterogeneity and advancing the quest for tailored approaches to diagnosis and intervention.
法尔氏病是一种极为罕见且复杂的神经系统疾病,其特征为基底神经节和大脑皮层出现异常钙沉积。本病例报告介绍了一名患有法尔氏病的27岁女性,展现了与该病症相关的显著临床多样性和具有挑战性的诊断情况。尽管法尔氏病罕见,但它可对患者产生深远影响,表现为一系列神经症状、认知缺陷和运动障碍。近期研究进展揭示了其遗传方面,为提高诊断准确性和治疗干预提供了潜在途径。法尔氏病的治疗主要仍为支持性治疗,针对神经精神症状和预防癫痫发作。我们的病例突出了一名患有法尔氏病的年轻女性患者的独特表现,挑战了传统的人口统计学特征,并强调了进行个体化患者评估的必要性。鉴于该病症临床表现多样,在诊断中使用非增强CT扫描凸显了适当成像技术的重要性。本病例增进了对法尔氏病的认识,强调了其临床异质性,并推动了寻求针对性诊断和干预方法的探索。