Fahr病表现为多发性脑钙化

Hyung mo Goo, Sang-Youl Yoon, Seong-Hyun Park
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摘要

Fahr病,又称特发性基底神经节钙化,是一种罕见的遗传异质性神经系统疾病。在此,我们报告一例罕见的Fahr疾病,表现为多发性脑钙化。一名63岁妇女因头晕到当地诊所就诊。入院时进行的脑部计算机断层扫描显示双侧基底节区、双侧小脑半球和左额叶多发高强度病变。相反,脑磁共振成像(MRI)在T2和t1加权图像上未见明显病变,注射钆后未见对比增强。然而,梯度回波MRI检测到多个暗信号。除了小脑半球和左额叶皮层下白质的不对称钙化外,病变的位置和影像学表现与生理性颅内钙化相似。该患者被诊断为基底神经节钙化并多发性脑海绵状畸形,或者不太可能是脑肿瘤。通过仔细的影像学和临床检查,钙化被诊断为Fahr病。计划了后续行动。在基底节区、小脑或皮层下深部白质出现多发性颅内钙化是Fahr病的一个重要警告信号。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Fahr disease presenting with multiple cerebral calcifications
Fahr disease, also known as idiopathic basal ganglion calcification, is a rare and genetically heterogeneous neurological disorder. Herein, we report a rare case of Fahr disease presenting with multiple cerebral calcifications. A 63-year-old woman presented with dizziness to a local clinic. Brain computed tomography performed on admission revealed multiple high-intensity lesions in both basal ganglia, both cerebellar hemispheres, and the left frontal lobe. In contrast, brain magnetic resonance imaging (MRI) showed no prominent lesions on T2- and T1-weighted images, and there was no contrast enhancement after gadolinium injection. However, multiple dark signals were detected on gradient echo MRI. The location and radiological appearance of the lesion resembled those of a physiological intracranial calcification, except for asymmetric calcification in both cerebellar hemispheres and the left frontal subcortical white matter. The patient was diagnosed with basal ganglion calcification with multiple cerebral cavernous malformations or, less likely, brain tumors. Through a careful radiological and clinical review, the calcifications were diagnosed as Fahr disease. Follow-up was planned. It is important to consider the presence of multiple intracranial calcifications in the basal ganglia, cerebellum, or deep subcortical white matter as a warning sign for Fahr disease.
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