A 21-year-old woman diagnosed with PE at 9 years of age in the context of a family study.
Symptoms began at the age of 3 to 4 years old with pain in both feet, achieving transient relief when placing their feet on cold surfaces.
Pain crisis triggered by fever and exercise
Feel intolerance to heat and causes sensation of dizziness.
Rare angiokeratomas.
Replacement therapy started recently.
Clinical and neurophysiological evaluation compatible with neuropatic involvement of thin and unmyelinated myelin fibers.
Absence of CRS in the feet and evaluation R-R interval normal limits.
