Neurofibromatosis Type 1 in Childhood with Periauricular Manifestations

Abstract

Introduction: Neurofibromatosis type 1 is a hereditary, autosomal dominant disease, with a penetrance of more than 50%. It consists of a malformation of the NF1 gene that leads to a deficiency or non-production of the protein neurofibromin, which regulates the survival and reproduction of cells and which, if not present, leads to the appearance of benign tumors of the perineurium of the cranial nerves, spinal and peripheral.

Objective: To describe the case of a child with neurofibromatosis type 1.

Clinical case: 9-year-old patient, diagnosed at the age of five with a deforming neurofibroma on the left side of the head above the pinna of that side. Café au lait spots are observed on the skin. Cutaneous and plexiform neurofibromas appear in the head and right lower limb, in addition, optic gliomas, bone deformities, learning disorders and epilepsy.

Conclusions: Neurofibromatosis type 1, although rare, should be diagnosed early to impose treatment and perform adequate genetic evaluation to guide family members according to the symptoms and signs. Heredity played an important role in the appearance of the disease; the father was the one who transmitted this genomic mutation. The phenotypic diversity of the disease was demonstrated even within members of the same family. Tomographic and nuclear magnetic resonance studies played their role in diagnosis and treatment planning.