Brain MRI findings in children and adolescents with Fabry disease

Area of Science:

• Neurology
• Pediatrics
• Medical Imaging

Background:

• Fabry disease (FD) is a rare genetic disorder that can affect various organs, including the brain.
• Brain abnormalities, such as white matter lesions (WML) and microbleeds, may occur in FD patients.
• Early diagnosis and treatment of FD are crucial to prevent disease progression and complications.

Purpose of the Study:

• To investigate the prevalence of white matter and hemorrhagic lesions in the brain MRI of children and adolescents with Fabry disease.
• To compare brain MRI findings in FD patients with a control group of healthy children and adolescents.
• To assess the correlation between clinical manifestations and brain MRI findings in FD.

Main Methods:

• Brain MRI scans of 44 children and adolescents with FD and 46 controls were analyzed for WML and microbleeds using standard and GRE-weighted sequences.
• Patients with FD had no prior history of stroke or transient ischemic attack (TIA).
• Clinical manifestations of FD were also evaluated in the patient group.

Main Results:

• Asymptomatic WML were detected in 15.9% of FD patients, compared to 6.5% in the control group (p=0.01).
• Brain abnormalities in FD patients included WML, deep gray matter, and infratentorial involvement; no microbleeds were observed.
• 90.9% of FD patients exhibited clinical signs or symptoms of the disease.

Conclusions:

• Asymptomatic white matter brain lesions are present in a significant proportion of children and adolescents with Fabry disease.
• Fabry disease should be considered in the differential diagnosis of unexplained brain lesions in pediatric patients.
• Identifying brain lesions in FD can facilitate earlier initiation of treatment, potentially improving outcomes.