A 56-year-old man with a history of PE, hypothyroidism on treatment and cardiomyopathy.
At the age of 5, she began suffering from pain in hands and feet triggered by exercise, sun exposure and fever.
From the age of 20 with a progressive decrease in seizures.
Occasionally, the patient experienced subjective dizziness and episodes of diarrhea.
The disease was diagnosed at 42 years as part of a family study with measurement of enzyme levels.
Enzyme replacement therapy was started at 45 years of age.
At 52 years old, cardiomyopathy was diagnosed and installed.
Rare angiokeratomas.
Clinical examination showed signs of left radial polyneuropathy and neurophysiological evaluation showed polyneuropathy with axonal sensitive involvement of thick myelin fibers and severe involvement of thin myelopathy, and thin myelopathy.
Generalized absence of CRS.
The R-R interval was not evaluated due to the use of medication.
