A 29-year-old man begins at the age of 4 years with a clinical picture characterized by pain in hands and feet triggered by exercise, fever, heat or cold.
Feeling frozen, which puts feet in warm water or shelters them
Occasionally a prickling sensation.
Abdominal disfunction and episodes of diarrhea
Rare angiokeratomas.
A recent diagnosis was made in the context of a family study, with enzyme levels.
Recent enzyme replacement therapy.
Clinical and neurophysiological evaluation compatible with neuropatic involvement of thin and unmyelinated myelin fibers.
Generalized absence of CRS and evaluation of R-R interval within normal limits.
