Abstract

SANCHO-TORRES, Mario  and  REYES-OVIEDO, Emma. Criterios para el diagnóstico y seguimiento de pacientes con Neurofibromatosis tipo 1. Rev. costarric. cienc. méd [online]. 1999, vol.20, n.1-2, pp.69-74. ISSN 0253-2948.

We present two patients with clinical diagnosis of Neurofibromatosis 1 (NF1), both of them without negative family history for the disease but with multiple café-au-lait spots and axillary or inguinal (skinfold) freckling. The female patient suffered osseous problems characterized by radium pseudoarthrosis and scoliosis and Lisch nodules. Male patient showed a left forehead mass present at birth, that caused proptosis, and whose histopathological study showed a plexiform neurofibroma. Both cases meet current diagnostic criteria of NFl. This studyCurrent diagnostic criteria of Neurofibromatosis 1 and Neurofibromatosis 2 in the context of these two cases.

Keywords : Neurofibromatosis; café-au-lait spots; skin-fold freckling; Lisch nodules; scoliosis; plexiform neurofibromas; optic pathway.