Iqbal Saba, Nassar Mahmoud, Chung Howard, Shaukat Tanveer, Penny Jeffrey E, Rizzo Vincent
Internal Medicine, Icahn School of Medicine at Mount Sinai/NYC (New York City) Health+Hospitals/Queens, New York, USA.
Internal Medicine, St. George's University, New York, USA.
Cureus. 2022 Mar 19;14(3):e23316. doi: 10.7759/cureus.23316. eCollection 2022 Mar.
Fahr's disease is a rare genetically dominant disease. It is characterized by the idiopathic deposition of calcium in the basal ganglia and cerebral cortex. The condition may cause motor impairment, impaired muscle tone, dementia, seizures, impairment of eye movements, speech, abnormal hand movements, cognitive impairment, and ataxia. The thalamus, white matter, and basal ganglia can be involved. A 77-year-old man with multiple comorbidities presented with a complaint of increasing confusion, altered mental status, dystonia, tremor, and hallucinations. The patient's daughter reported that he sounded confused and inappropriate in his speech. A computerized tomography (CT) scan of the head without contrast revealed a "dense calcification of the dentate nuclei and the basal ganglia" and "subcortical calcification of the frontal and occipital lobes." The patient was diagnosed with late-onset Fahr's disease. Fahr's disease is caused by idiopathic calcification of the bilateral basal ganglia. A wide variety of symptoms are associated with this condition. Fahr's disease should be considered in the differential diagnosis in geriatric patients suffering from cognitive impairment and movement disorders.
法尔氏病是一种罕见的常染色体显性疾病。其特征是基底神经节和大脑皮质出现特发性钙沉积。该病可能导致运动障碍、肌张力受损、痴呆、癫痫发作、眼球运动障碍、言语障碍、手部异常运动、认知障碍和共济失调。丘脑、白质和基底神经节也可能受累。一名患有多种合并症的77岁男性,主诉为意识混乱加剧、精神状态改变、肌张力障碍、震颤和幻觉。患者的女儿报告称,他说话时听起来语无伦次且不得体。头部非增强计算机断层扫描(CT)显示“齿状核和基底神经节致密钙化”以及“额叶和枕叶皮质下钙化”。该患者被诊断为迟发性法尔氏病。法尔氏病由双侧基底神经节特发性钙化引起。这种疾病会引发多种症状。对于患有认知障碍和运动障碍的老年患者,鉴别诊断时应考虑法尔氏病。