The case of late diagnosis of neurofibromatosis

Abstract

Neurofibromatosis is a genetic disorder that causes benign tumors, which developed on nerves, on the spinal cord or in the brain; in rare cases, tumors can become cancerous. Neurofibromatosis is usually diagnosed in childhood or early adulthood, and characterized by neurological manifestations, specific skin changes and orthopedic defects. Complications of neurofibromatosis can include cardiovascular problems, hearing loss, dizziness, loss of vision, weakness of the muscles, severe pain, convulsion. We present a girl 14-year-old patient with late diagnosed neurofibromatosis, who developed central tetraparesis, torticollis and dysphonia.