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Updated: Jun 3, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Brain MRI findings in patients with Fabry disease
Ricardo C Reisin1, Carlos Romero, Cintia Marchesoni
1Neurology Department, Hospital Británico de Buenos Aires, Argentina. rcreisin@intramed.net
Background:
To evaluate the presence of ischemic and hemorrhagic lesions in brain MRI of patients with Fabry disease (FD).
Methods:
Brain MRI studies in 46 consecutive patients were evaluated using classic sequences as well as GRE-weighted images, for ischemic lesions and chronic microbleed detection. Of the 36 adult patients (15 males, mean age 31.2 years; 21 females, mean age 41.6 years). All had signs or symptoms of FD but lacked history of stroke or TIA.
Results:
Ten patients under 20 years of age initially presented a normal MRI. One child developed a hyperintense occipital lesion on T2-weighted imaging during control MRI. Sixteen adult patients (44.4%) had brain MRI evidence of small vessel disease in the basal ganglia, corona radiata, thalamus or brainstem, as well as in the periventricular white matter. Patients with MRI abnormalities were older (45.6 vs 30.9 years, p=0.005), with more vascular risk factors (1.2 vs 0.6 p=0.043). Three women (mean age 59.5 years) presented deep chronic microbleeds identified by GRE. Moreover, Flair and T2-weighted images revealed white matter disease and deep gray matter involvement.
Conclusion:
44.4% of adult patients with FD without clinical history of CVA or prior dialysis had evidence of small vessel disease on MRI and 11% showed cerebral microbleeds. FD is a treatable disorder that should be routinely included in the differential diagnosis of ischemic and microhemorrhagic lesions in young adults.
Insights
Brain MRI revealed small vessel disease in 44.4% of adult Fabry disease (FD) patients and microbleeds in 11%. FD should be considered in diagnosing ischemic and hemorrhagic brain lesions.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Fabry disease (FD) is a rare genetic disorder that can affect multiple organs, including the brain.
- Cerebral involvement in FD can manifest as ischemic or hemorrhagic lesions, often detected via MRI.
- Early diagnosis and management are crucial for preventing severe neurological complications.
Purpose of the Study:
- To investigate the prevalence of ischemic and hemorrhagic lesions in the brains of patients with Fabry disease using MRI.
- To identify specific MRI findings associated with Fabry disease, including small vessel disease and microbleeds.
Main Methods:
- Brain MRI scans of 46 consecutive patients with Fabry disease were analyzed.
- Classic MRI sequences and GRE-weighted images were used to detect ischemic lesions and chronic microbleeds.
- Patient data, including age, sex, and clinical symptoms, were correlated with MRI findings.
Main Results:
- Ten pediatric patients (under 20) had normal initial MRIs; one developed an occipital lesion.
- 44.4% of adult patients (36 total) exhibited signs of small vessel disease in various brain regions.
- Three adult women presented with deep chronic microbleeds detected by GRE sequences.
Conclusions:
- A significant proportion of adult Fabry disease patients without a history of stroke show MRI evidence of small vessel disease and cerebral microbleeds.
- Fabry disease should be routinely considered in the differential diagnosis for young adults presenting with ischemic or microhemorrhagic brain lesions.
- MRI is a valuable tool for detecting and characterizing cerebrovascular complications in Fabry disease.
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