Proposal of modification of the diagnostic approaches de neurofibromatosis type 1

Abstract

Of the patients with Legius syndrome, 2 % completes the diagnostic approaches of neurofibromatosis type since 1 they present brown stain with milk and sign of Crowe, this makes indistinguishable the two diseases. The objective of the study was to evaluate the proposal of modification of the diagnostic approaches of neurofibromatosis type 1. Was carried out in The Tunas, a quasi-experimental study. By means of the varying Delphi of the method of experts, the proposal of modification of the diagnostic approaches of the neurofibromatosis type 1 were designed. The sample corresponded with 119 patients that complete the approaches of the neurofibromatosis type 1. Was carried out molecular genetic study for neurofibromatosis type 1 to those that completed alone with the brown presence of stains with milk and sign of Crowe. When the molecular exam was negative, it was considered the diagnosis of Legius syndrome. Proportion was studied of patient according to the manifestations, positivity index, exact test of Fisher and adjusted correction of Yachts with p≤0.05 and to determine the agreement grade between current approaches and the modified approaches the index Kappa of Cohen it was determined. Most of the patients that alone they presented brown stains with milk associated to the sign of Crowe without other manifestations, they were negative to the molecular genetic study for neurofibromatosis 1, they were diagnosed as Legius syndrome. When evaluating the effectiveness of the proposed modified approaches it was determined that they allow to carry out the diagnosis of neurofibromatosis type 1 with 95 % of dependability, avoiding the error diagnoses with the Legius syndrome.