109. Laser evoked potentials and skin biopsy to evaluate small nerve fiber dysfunction in Fabry disease: A preliminary study

Abstract

Fabry’s disease (FD) is caused by an X-linked mutation, and a characteristic feature is a severe loss of small myelinated fibers (AΔ) and small unmyelinated fibers (C) shown by skin biopsy. However, the pathophysiological mechanisms underlying the disease are still largely unknown. We recruited 3 patients with previously diagnosed Fabry’ disease. The specific aim of this study is to verify a possible correlation between laser evoked potentials and skin biopsy to diagnose small nerve fibers involvement in these patients. Two patients showed abnormal skin biopsy which disclosed a somatic and autonomic small fiber neuropathy and altered LEPs with increased latencies of N2-P2 and N1 cortical responses (or absence), involving both AΔ fiber responses (hand, foot and trigeminal nerve) and C-fiber responses. The third patient showed LEPs and skin biopsy normal findings. Our data demonstrated a good concordance between LEP and skin biopsy in evaluating small nerve fiber loss in FD. However these data should be considered preliminary and a larger number of patients must be recruited before to draw any definite conclusion.