Department of Neurology and Stroke Unit, Annunziata Hospital of Cosenza, Cosenza, Italy.
Department of Experimental and Clinical Medicine, Magna Graecia University, Catanzaro, Italy.
Curr Med Imaging. 2022;18(13):1443-1446. doi: 10.2174/1573405618666220518101844.
Fabry disease (FD) is a rare X-linked multisystem lysosomal storage disease caused by partial or total deficiency of a-galactosidase A (GLA). A progressive involvement of the kidneys, heart, and brain arteries has been reported. Using the transcranial color-coded duplex Doppler (TCCD), we report the case of a Fabry disease (FD) patient with a reduction in the cerebrovascular reactivity of the basilar artery (BA).
A 46-year-old male asymptomatic FD patient underwent ultrasound intracranial investigation.
We report the case of a 46-year-old man affected by asymptomatic FD, who presented to our observation for episodes of vertigo. Cerebral MRI and AngioMRI were found to be normal. There was no postural hypotension observed. Otolaryngology and cardiac examinations revealed no pathological condition. A TCCD showed normal cerebral vascular reactivity (CVR) in the bilateral middle cerebral arteries (MCA), breath-holding index (BHI) was 1.3 in the right MCA (RMCA) and 1.4 in left MCA (LMCA), and BHI in the basilar artery (BA) was reduced (BHI: 0,56).
This case suggests an earlier alteration of CVR in the posterior cerebral circulation than in the anterior cerebral circulation in an asymptomatic FD patient. This alteration of CVR may be an earlier marker of FD diagnosis.
法布里病（FD）是一种罕见的 X 连锁多系统溶酶体贮积病，由α-半乳糖苷酶 A（GLA）部分或完全缺乏引起。已报道肾脏、心脏和脑动脉的进行性受累。我们使用经颅彩色双功能多普勒（TCCD）报告了一例基底动脉（BA）脑血流反应性降低的法布里病（FD）患者。
一名 46 岁无症状 FD 男性患者接受了颅内超声检查。
我们报告了一例 46 岁无症状 FD 男性患者的病例，他因眩晕发作就诊。脑 MRI 和 AngioMRI 正常。未观察到体位性低血压。耳鼻喉科和心脏检查未发现病理状况。TCCD 显示双侧大脑中动脉（MCA）的脑血管反应性（CVR）正常，右侧 MCA（RMCA）的呼吸暂停指数（BHI）为 1.3，左侧 MCA（LMCA）为 1.4，基底动脉（BA）的 BHI 降低（BHI：0.56）。
该病例提示无症状 FD 患者的后循环 CVR 较前循环更早发生改变。这种 CVR 的改变可能是 FD 诊断的早期标志物。
