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Redefining the Pulvinar Sign in Fabry Disease
S Cocozza1, C Russo2, A Pisani3
1From the Departments of Advanced Biomedical Sciences (S.C., C.R., G.O., A.C., G.P., M.I., A.B., E.T.).
AJNR. American Journal of Neuroradiology
|October 21, 2017
Summary
The pulvinar sign, a brain MRI finding, is rare in Fabry disease, occurring in only 3.0% of patients. Quantitative MRI analysis showed no significant differences, suggesting it
Area of Science:
- Neuroradiology
- Neurology
- Genetics
Background:
- The pulvinar sign, characterized by T1WI hyperintensity in the lateral pulvinar, has been historically associated with Fabry disease.
- However, its actual prevalence in Fabry disease cohorts remains unquantified, despite its recognition in various pathologies.
Purpose of the Study:
- To determine the prevalence of the pulvinar sign in a large cohort of patients with Fabry disease.
- To investigate if relaxometry changes in the pulvinar region are detectable independently of the pulvinar sign in Fabry disease.
Main Methods:
- Retrospective analysis of brain MRI scans from 133 patients diagnosed with Fabry disease.
- A subgroup of 26 patients underwent advanced relaxometry imaging (2 FLASH sequences), compared against 34 healthy controls.
Main Results:
- The pulvinar sign was identified in only 4 out of 133 Fabry disease patients (3.0%), predominantly in male patients with renal failure on enzyme replacement therapy.
- No significant differences were observed in quantitative susceptibility mapping or relaxometry maps between Fabry disease patients and healthy controls.
Conclusions:
- The incidence of the pulvinar sign in Fabry disease is significantly lower than previously assumed.
- The rarity of this sign, alongside absent quantitative MRI differences, suggests selective pulvinar involvement is an uncommon neuroradiologic marker for Fabry disease.
