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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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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

This summary is machine-generated.

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

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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.