Castellanos Pinedo Alejandro Alberto, Arenas Diana Carolina Vergara, Carreño Gabriela Almeyda, Lobo Alexander Reyes, Muñoz Julia Regina Devoz, Bueno Rafael Castellanos
Emergency Department at Hospital San Jerónimo de Montería, Montería, Córdoba, Colombia.
Department of Internal Medicine, Germina Group, Universidad Industrial de Santander, Bucaramanga, Colombia.
AACE Endocrinol Diabetes. 2025 Apr 10;12(1):36-40. doi: 10.1016/j.aed.2025.03.001. eCollection 2025 May-Jun.
BACKGROUND/OBJECTIVE: Bilateral basal ganglia calcifications are rare manifestations of neurodegenerative disorders associated with disturbances of brain calcium-phosphorus homeostasis. This report describes a patient with Fahr's syndrome secondary to normocalcemic primary hyperparathyroidism, a rarely reported entity that should be considered as a differential diagnosis.
A 61-year-old woman consulted the medical service stating: "I had a seizure and fell off my motorcycle." She reported experiencing syncope, vertigo, dizziness, dysarthria, limited lateral head movements, neck extension, and headache. These symptoms had been ongoing for a year. No significant medical history was identified, and no positive findings were noted on physical examination. Corrected serum calcium 9.83 mg/dL (8.6-10.3 mg/dL), parathyroid hormone 228.7 pg/mL (15-65 pg/mL), vitamin D 23 ng/mL (>20 ng/mL), thyroid-stimulating hormone 10.34 mU/L (0.4-4.5 mU/L), and free T4 0.81 ng/dL (0.8-1.9 ng/dL). A parathyroid ultrasound revealed 2 nodular images. Treatment with levetiracetam 500 mg every night was started. She currently experiences occasional episodes of vertigo and headache.
Fahr's syndrome is characterized by bilateral basal ganglia calcifications and has a multifactorial etiology. Differential diagnoses include infections and congenital disorders. In normocalcemic primary hyperparathyroidism, ectopic calcifications may arise from variations in serum calcium and reduced vitamin D production. Pharmacologic treatment focuses on managing neuropsychiatric symptoms, often involving anticonvulsants.
Normocalcemic primary hyperparathyroidism is increasingly linked to Fahr's syndrome, highlighting the need to consider metabolic disorders despite normal calcium levels. Early diagnosis enhances targeted management, improving symptom control and quality of life.
背景/目的:双侧基底节钙化是与脑钙磷稳态紊乱相关的神经退行性疾病的罕见表现。本报告描述了一例继发于血钙正常的原发性甲状旁腺功能亢进的法尔综合征患者,这是一种很少报道的疾病,应作为鉴别诊断予以考虑。
一名61岁女性到医疗部门就诊,称:“我癫痫发作,从摩托车上摔了下来。”她报告有晕厥、眩晕、头晕、构音障碍、头部侧向运动受限、颈部伸展和头痛。这些症状已经持续了一年。未发现重大病史,体格检查也未发现阳性体征。校正血清钙9.83mg/dL(8.6 - 10.3mg/dL),甲状旁腺激素228.7pg/mL(15 - 65pg/mL),维生素D 23ng/mL(>20ng/mL),促甲状腺激素10.34mU/L(0.4 - 4.5mU/L),游离T4 0.81ng/dL(0.8 - 1.9ng/dL)。甲状旁腺超声显示2个结节图像。开始每晚服用500mg左乙拉西坦进行治疗。她目前偶尔仍会出现眩晕和头痛发作。
法尔综合征的特征是双侧基底节钙化,病因多因素。鉴别诊断包括感染和先天性疾病。在血钙正常的原发性甲状旁腺功能亢进中,异位钙化可能源于血清钙的变化和维生素D生成减少。药物治疗侧重于管理神经精神症状,通常涉及抗惊厥药。
血钙正常的原发性甲状旁腺功能亢进与法尔综合征的关联日益增加,凸显了尽管钙水平正常仍需考虑代谢紊乱的必要性。早期诊断可加强针对性管理,改善症状控制和生活质量。