Cerebral Microbleeds Identified by Susceptibility-Weighted Imaging in Two Cases of Fabry Disease without Neurological Symptoms

Mineka Yamazoe,Masayuki Maeda,Hajime Sakuma,Hidekazu Tomimoto,Maki Umino

doi:10.4236/ojmi.2015.54024

Abstract

Cerebrovascular disease is one of the fatal causes of Fabry disease (FD). Brain magnetic resonance imaging findings typically show lacunar infarcts in young patients with FD, but brain hemorrhages in FD are rarely reported. We report two cases of FD focusing on cerebral microbleeds (CMBs). Susceptibility-weighted imaging (SWI) and T2*-weighted imaging reveal several lobar and deep CMBs in two patients with no medical history of stroke symptoms, hypertension, and anticoagulant/antiplatelet treatment. SWI can detect a greater number of CMBs than T2*-weighted imaging. Thus, SWI is an excellent tool for identifying underlying CMBs in FD.

Highlights

Fabry disease (FD) is a rare, X-linked, inherited disorder of glycosphingolipid metabolism, which is caused by absent or deficient activity of α-galactosidase A
We report two FD cases without neurological symptoms, focusing on cerebral microbleeds (CMBs) identified using Susceptibility-weighted imaging (SWI)
SWI showed a greater number of CMBs than T2*-weighted imaging in the two patients, in Case 2

Summary

Introduction

Fabry disease (FD) is a rare, X-linked, inherited disorder of glycosphingolipid metabolism, which is caused by absent or deficient activity of α-galactosidase A. (2015) Cerebral Microbleeds Identified by Susceptibility-Weighted Imaging in Two Cases of Fabry Disease without Neurological Symptoms. Progressive renal failure, hypertrophic cardiomyopathy, and cerebrovascular disease can occur [1]. Regarding cerebral microbleeds (CMBs) identified by magnetic resonance imaging (MRI), only one study has reported using T2*-weighted images [3]. Susceptibility-weighted imaging (SWI) utilizes the susceptibility differences between adjacent tissues to produce tissue contrast and is exquisitely sensitive to the detection of blood products. To the best of our knowledge, there have been no reports on FD cases evaluated using SWI. We report two FD cases without neurological symptoms, focusing on CMBs identified using SWI

Case 1

Case 2

MRI Analysis of CMBs

Findings

Discussion