Can you share with as an example of a patient who was ultimately diagnosed with Fabry Disease on the basis of neurological symptoms and why the diagnosis was almost missed initially, as it so often is in childhood and adolescents?

Can you share with as an example of a patient who was ultimately diagnosed with Fabry Disease on the basis of neurological symptoms and why the diagnosis was almost missed initially, as it so often is in childhood and adolescents?

Can you share with as an example of a patient who was ultimately diagnosed with Fabry Disease on the basis of neurological symptoms—including acroparesthesias—and why the diagnosis was almost missed initially, as it so often is in childhood and adolescents?


Created by

CMEducation Resources IQ&A Fabry Disease Diagnostic Intelligence Zone

Presenter

Heather Lau, MD

Heather Lau, MD

Assistant Professor, Department of Neurology
Associate Director, Division of Neurogenetics
Director, Lysosomal Storage Disease Program
NYU Langone
New York, NY