Kassal Ghizlane, Elqadiri Rabiy, Mghar Soumia, Nassih Houda, Abourrahouat Aicha, Ouassil Sara, Aitsab Imane
Mother and Child Department, General Pediatrics, University Hospital Center, Mohammed VI, Marrakech, MAR.
Radiology Department, University Hospital Center, Mohammed VI, Marrakech, MAR.
Cureus. 2025 May 13;17(5):e84001. doi: 10.7759/cureus.84001. eCollection 2025 May.
Fahr's syndrome is a rare neurological disorder marked by unusual calcium deposits in specific brain regions. Its occurrence is linked to various underlying causes, including hormonal imbalances, genetic predispositions, infections affecting the central nervous system, and exposure to certain toxic substances. We describe a pediatric case of Fahr's syndrome linked to hypoparathyroidism, presenting with seizures and developmental delays. Suspicion of this diagnosis was raised due to anamnestic, clinical, and laboratory findings and confirmed after the cerebral computed tomography (CT) scan showed brain calcifications. Emphasizing the necessity of early identification, this case underscores the value of clinical and biological markers in guiding diagnosis. Additionally, it highlights the essential role of imaging techniques in confirming the presence of brain calcifications and aiding effective management.
Fahr综合征是一种罕见的神经系统疾病，其特征是特定脑区出现异常钙沉积。其发生与多种潜在原因有关，包括激素失衡、遗传易感性、影响中枢神经系统的感染以及接触某些有毒物质。我们描述了一例与甲状旁腺功能减退相关的小儿Fahr综合征病例，表现为癫痫发作和发育迟缓。根据病史、临床和实验室检查结果怀疑该诊断，并在脑部计算机断层扫描（CT）显示脑钙化后得到证实。该病例强调了早期识别的必要性，突显了临床和生物学标志物在指导诊断中的价值。此外，它还突出了成像技术在确认脑钙化存在及辅助有效管理方面的重要作用。
