Neurofibromatosis (Von Recklinghausen’s disease). Study of a case series

Abstract

The findings from a group of 23 patients with neurofibromatosis type I (Von Recklinghausen’s disease) are reported. Eighteen cases (78,26 %) had a positive family history. Besides the «café-au-lait» spots (100 %), the authors emphasize the presence of tumors: brain tumors (3,34 %), optic glyoma (4,34 %), plexiform neuroma (8,68 %) and neurofibroma (13,04 %). Other clinical symptoms were: macrocephaly (30,43 %), mental retardation (26,08 %), weight and growth retardation (21,70 % and 17,39 %, respectively), scoliosis (17,39 %), facial palsy (8,69 %), facial hemihypertrophy (8,69 %) and some others in lower percentage: tibia pseudoarthrosis, convulsions and migraine.

The systemic character of this disease is proved. It can affect to any tissue of organism, that justify the need of a close follow-up of these patients in order to precociously discover any possible hide manifestation.