Samuels Courtland R, Khanni Javed L, Barkley Kory, Azhar Mishah, Espinosa Patricio S
Emergency Medicine, Florida Atlantic University Charles E. Schmidt College of Medicine, Boca Raton, USA.
Neurology, Florida Atlantic University Charles E. Schmidt College of Medicine, Boca Raton, USA.
Cureus. 2018 Dec 1;10(12):e3668. doi: 10.7759/cureus.3668.
Idiopathic basal ganglia calcification (IBGC), commonly referred to as Fahr's disease, is a rare neurological disorder characterized by the abnormal, symmetrical, and bilateral calcification of the basal ganglia and other brain regions. Patients typically present in their forties and fifties with various neurologic and/or psychiatric symptoms, including movement disorders, Parkinsonism, psychosis, and depression. The pathophysiology of this disease is not completely understood; however, several gene mutations have been identified in the pathogenesis of Fahr's disease. These mutations display an autosomal dominant inheritance pattern. Furthermore, the regional phenotypic expression of calcifications differs greatly from patient to patient, as do their clinical presentations. Here, we describe a patient who presented with psychiatric manifestations and imaging consistent with Fahr's disease.
特发性基底节钙化(IBGC),通常称为法尔病,是一种罕见的神经系统疾病,其特征是基底节和其他脑区出现异常、对称和双侧钙化。患者通常在四五十岁时出现各种神经和/或精神症状,包括运动障碍、帕金森综合征、精神病和抑郁症。这种疾病的病理生理学尚未完全了解;然而,在法尔病的发病机制中已鉴定出几种基因突变。这些突变表现为常染色体显性遗传模式。此外,钙化的区域表型表达在患者之间差异很大,其临床表现也是如此。在此,我们描述了一名表现出与法尔病一致的精神症状和影像学表现的患者。