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Stručni rad

https://doi.org/10.13112/PC.2022.7

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

Hrvoje Jednačak
Ivan Pašalić
Barbara Vukić
Sara Dejanović Bekić
Maja Pavlović


Puni tekst: hrvatski pdf 482 Kb

str. 38-41

preuzimanja: 171

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Sažetak

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.

Ključne riječi

NEUROFIBROMATOSES; FIBRINOGEN PETOSKEY

Hrčak ID:

286219

URI

https://hrcak.srce.hr/286219

Datum izdavanja:

30.6.2022.

Podaci na drugim jezicima: hrvatski

Posjeta: 483 *