Differences Between the Two Most Common Forms of Neurofibromatosis and the Importance of their Exact Diagnosis- a case report

Abstract

Neurofi bromatosis type 2 is a rare genetic disease with an autosomal dominant mode of transmission. It is characterized by many
tumors in the central nervous system, where meningiomas and schwannomas are the most common. The hallmark of this disease
is bilateral vestibulocochlear schwannomas. Although certain similarities with neurofi bromatosis type 1 exist, neurofi bromatosis
type 2 is caused by a completely diff erent gene mutation, producing a distinct clinical presentation and is monitored and treated
diff erently. This paper will present the case of a 17-year-old boy misdiagnosed with neurofi bromatosis type 1 at the beginning of his
clinical workup. After taking a detailed patient history and an additional radiological examination, the correct diagnosis of neurofi -
bromatosis type 2 was reached. The patient was operated on multiple times by experienced surgeons, which was thoroughly discussed at the pediatric oncology board. Neurofi bromatoses come in many forms and are diff erent diseases. Every diagnosis of neurofi bromatosis should be made using defi ned diagnostic criteria to enable the correct treatment of the patient and preserve the
patient’s quality of life as much as possible.