Srichawla Bahadar S, Andrade Eduardo, Kipkorir Vincent
Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, USA.
University of Nairobi School of Medicine, Nairobi, Kenya.
SAGE Open Med Case Rep. 2023 Aug 30;11:2050313X231197521. doi: 10.1177/2050313X231197521. eCollection 2023.
Brain calcifications, previously known as Fahr's disease, is a rare neurological disorder marked by various clinical symptoms, including movement disorders, cognitive impairment, and psychiatric disturbances. Despite its clinical importance, its pathophysiology is unclear and there are no specific treatments. We present four cases of brain calcifications from our tertiary care center, with three female patients (75%) and an average age of 63 years. Our cohort featured both genetic and endocrine etiologies, including one primary familial brain calcification case with a c.852del frameshift mutation in the gene, and two endocrinopathy-related cases. One patient had an acute stroke which may have been contributed by brain calcifications. Computerized tomography and magnetic resonance imaging scans revealed basal ganglia and dentate nucleus calcifications. Treatment involved physical and occupational therapy in all patients. Hypoparathyroidism-related brain calcifications were treated with oral supplementation with calcitriol, calcium, and vitamin D. Three patients showed improvement or stability of their symptoms. This case series underscores the diverse clinical presentations and etiologies of brain calcifications. The complex pathophysiology involves disrupted Ca-PO homeostasis, deficient cellular PO transport, and vascular irregularities in genetic etiologies. Future research should focus on identifying novel genetic mutations, understanding molecular pathways, and refining diagnostic techniques. Integrating multidisciplinary approaches may improve diagnosis, management, and prognosis for patients with this intricate neurological disorder.
脑钙化，以前称为法尔氏病，是一种罕见的神经系统疾病，其特征是出现各种临床症状，包括运动障碍、认知障碍和精神障碍。尽管其具有临床重要性，但其病理生理学尚不清楚，且没有特效治疗方法。我们展示了来自我们三级医疗中心的4例脑钙化病例，其中3例为女性患者（75%），平均年龄63岁。我们的队列包括遗传和内分泌病因，其中1例为原发性家族性脑钙化病例，其基因存在c.852del移码突变，还有2例与内分泌病相关的病例。1例患者发生急性中风，可能与脑钙化有关。计算机断层扫描和磁共振成像扫描显示基底神经节和齿状核钙化。所有患者均接受了物理和职业治疗。与甲状旁腺功能减退相关的脑钙化采用骨化三醇、钙和维生素D口服补充治疗。3例患者的症状有所改善或稳定。该病例系列强调了脑钙化的多种临床表现和病因。复杂的病理生理学涉及钙磷稳态破坏、细胞磷转运缺陷以及遗传病因中的血管异常。未来的研究应集中于识别新的基因突变、理解分子途径以及完善诊断技术。整合多学科方法可能会改善这种复杂神经系统疾病患者的诊断、管理和预后。
