Author(s): Rolfs, Prof. Arndt, MD, Tanislav, Prof. Christian, MD, Giese, Anne Katrin, MD, Kolodny, Edwin, MD, Böttcher, Tobias, PhD, Bitsch, Prof. Andreas, MD, Köhler, Prof. Wolfgang, MD, Gaedeke, Jens, MD, Duning, Prof. Thomas, MD
We present an overview of cases of Fabry disease initially misdiagnosed with multiple sclerosis and report the clinical and laboratory findings. Read more!
There are several anamnestic and clinical hints indicating when Fabry disease should be considered a relevant differential diagnosis of multiple sclerosis, e.g. female patients with asymmetric, confluent white matter lesions on MRI, normal spinal MR imaging, ectatic vertebrobasilar arteries, proteinuria, or lack of intrathecally derived immunoglobulin synthesis.
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