Mohammedin Ahmed S, Alkharashi Abdullah F, Alabdulqader Azzam A, Abualola Hossain A, Serih Mohammed A
Geriatric Medicine, Ain Shams University, Cairo, EGY.
Internal Medicine - Geriatrics, King Fahad Hospital of the University, Imam Abdulrahman Bin Faisal University, Khobar, SAU.
Cureus. 2021 Sep 19;13(9):e18091. doi: 10.7759/cureus.18091. eCollection 2021 Sep.
Fahr's disease is a rare genetic neurodegenerative disorder described as "bilateral striopallidodentate calcinosis" (BSPDC). It is characterized by calcium deposition crossing the blood-brain barrier and calcifying different brain areas. Here, we report a case of a 26-year-old Saudi young lady, known as a case of epilepsy since childhood, a major depressive disorder with psychotic features, and hypocalcemia related to hypoparathyroidism. CT brain showed extensive coarse calcifications involving the infra and supratentorial white matter, predominantly within the basal ganglia, thalami, and dentate nuclei of cerebellar hemispheres. This report will discuss the challenging presentation, clinical symptoms, and the multidisciplinary approach to manage Fahr's syndrome symptoms. In conclusion, this case emphasizes the importance of neuroimaging and metabolic workup when investigating the seizure's etiology. The goal of treatment in Fahr's syndrome is to manage the underlying conditions.
法尔氏病是一种罕见的遗传性神经退行性疾病，被描述为“双侧纹状体苍白球齿状核钙化症”（BSPDC）。其特征是钙沉积穿过血脑屏障并使不同脑区钙化。在此，我们报告一例26岁的沙特年轻女性病例，她自幼患有癫痫，患有伴有精神病性特征的重度抑郁症，以及与甲状旁腺功能减退相关的低钙血症。脑部CT显示广泛的粗大钙化，累及幕下和幕上白质，主要位于基底神经节、丘脑和小脑半球的齿状核。本报告将讨论具有挑战性的临床表现、临床症状以及管理法尔氏综合征症状的多学科方法。总之，该病例强调了在调查癫痫病因时神经影像学和代谢检查的重要性。法尔氏综合征的治疗目标是控制潜在疾病。
