Department of Family Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, Michigan, USA
Department of Medicine, Karnataka Institute of Medical Sciences Hubballi, Hubli, India.
BMJ Case Rep. 2024 Jan 31;17(1):e258470. doi: 10.1136/bcr-2023-258470.
Fahr's disease is a rare condition characterised by the presence of idiopathic familial bilateral basal ganglia calcifications, transmitted in an autosomal-dominant fashion. Diagnosis is based on clinical features of neuropsychiatric and somatic symptoms in conjunction with radiological findings. Our patient, a man in his early 50s, presented with pneumonia. History was significant for five admissions in the last 2 years for pneumonia and falls, with gradual cognitive and motor decline since his late 30s. Hypophonia, bradykinesia and dementia were noted on examination. CT of the brain revealed bilateral thalamic calcinosis, consistent with Fahr's syndrome. Further investigations and retrospective history taking, and similar radiological findings within first-degree and second-degree relatives with early deaths, transitioned the diagnosis from Fahr's syndrome to Fahr's disease. We present this case of Fahr's disease to emphasise the value of collaboration among multidisciplinary professionals to improve quality of care for such patients.
Fahr 病是一种罕见的疾病,其特征是存在特发性家族性双侧基底节钙化,呈常染色体显性遗传方式。诊断基于神经精神和躯体症状的临床特征,并结合影像学发现。我们的患者是一位 50 多岁的男性,因肺炎就诊。病史显示,他在过去 2 年中因肺炎和跌倒住院 5 次,自 30 多岁末以来认知和运动能力逐渐下降。检查时发现声音低微、运动迟缓伴痴呆。头颅 CT 显示双侧丘脑钙化,符合 Fahr 综合征。进一步的检查、回顾性病史采集,以及一级和二级亲属中具有早逝和类似的影像学发现,将诊断从 Fahr 综合征转变为 Fahr 病。我们报告 Fahr 病的这个病例,是为了强调多学科专业人员之间的协作对于提高此类患者的护理质量的重要性。