Fabry disease: clinical and genotypic aspects of three cases in first\ndegree relatives
Case 2: an 11-year-old boy presented burning pains in the lower limbs,\nwhich worsened with hot weather, although less intensively than in his brother's case\n(Case 1). During examination angiokeratomas were noticed, limited to the periumbilical\nregion. He presented cornea verticillata, while the audiometry and other laboratory,\nelectrocardiographic and imaging exams were normal. Enzyme α- Gal A deficiency was\nobserved in the plasma and leukocytes (plasma: 0.11 umol/h; leukocytes: 0.46\nnmol/mg/h).