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

Neurofibromatosis 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 neurofibromatosis type 1 exist, neurofibromatosis type 2 is caused by a completely different gene mutation, producing a distinct clinical presentation and is monitored and treated differently. This paper will present the case of a 17-year-old boy misdiagnosed with neurofibromatosis 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 dis- cussed at the pediatric oncology board. Neurofibromatoses come in many forms and are different diseases. Every diagnosis of neu- rofibromatosis should be made using defined diagnostic criteria to enable the correct treatment of the patient and preserve the patient’s quality of life as much as possible.
Category: Case report
Volume: Vol. 66, No 1-2, january-june 2022
Authors: Hrvoje Jednačak, Ivan Pašalić, Barbara Vukić, Sara Dejanović Bekić, Maja Pavlović
Reference work: Paediatr Croat. 2022;66:38-41
DOI: http://dx.doi.org/10.13112/PC.2022.7

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