目的 探讨Fahr病的临床表现及影像学特征,避免误诊.方法 对6例Fahr病患者的临床表现、家族病史、辅助检查、诊断、治疗及转归进行回顾性分析.结果 6例患者均为散发病例.临床症状主要表现为头晕头痛、认知障碍、进行性痴呆、卒中样事件、精神异常、锥体外系症状、共济失调、震颤、构音障碍、失眠等.CT扫描均显示双侧对称性的基底节区钙化.结论 Fahr病的特点是CT扫描显示对称性的基底节区钙化,包括尾状核、豆状核和丘脑,血清钙、磷和甲状旁腺激素水平正常是其与其他颅内钙化性疾病相鉴别的关键指标.%Objective To discuss the clinical manifestation and image characteristics of patients with Fahr disease,in order to avoid misdiagnosis.Methods Clinical data from six patients with Fahr disease were retrospectively analyzed,including clinical manifestations,family history,laboratory examination,diagnosis and differential diagnosis and therapies.Results All the cases are sporadic.The main clinical symptoms included dizziness,cognitive impairment,progressive dementia,stroke-like events,mental disorder,extrapyramidal symptoms,ataxia,tremor,dysarthria,insomnia.Bilateral and symmetric calcification of the basal ganglia was shown according to CT scan.Conclusions Fahr disease is characterized in bilateral and symmetric calcification of the basal ganglia,including the caudate nucleus,lentiform nucleus and thalami.A normal level of serum calcium,phosphorus and parathyroid hormone are the markers for Fahr disease to differentiate from other diseases.
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