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Revista de Actualización Clínica Investiga
versão impressa ISSN 2304-3768
Resumo
PINTO QUINTEROS, Yasmin. ENFERMEDAD VON RECKLINGHAUSEN TIPO 2 (NF2). Rev. Act. Clin. Med [online]. 2014, vol.45, pp. 2406-2410. ISSN 2304-3768.
ABSTRACT Von Recklinghausen disease a rare disorder, resulting from a mutation on chromosome 22, resulting in the decrease of a protein called "merlin," which has the function of suppressing tumor growth. This autosomal dominant disease, present predominantly in males, is characterized by the presence of tumors in the central nervous system and peripheral predominance commitment VIII nerve. Thus the schwuanomas or vestibular schwanomas develop the presence of nausea, vomiting or dizziness, in addition to tumor existence in other cranial nerves, speaking with own statements to the commitment of the affected nerve, provoking eye, skin, sensory disturbances, compressive by ependinomas, etc. Diagnosis is mainly clinical, supported prenatal genetic tests and studies with radio images, computed tomography (CT) of the head or ocular fundus examination, etc. The treatment is in the exeresis of the tumor, according to degree of impairment, and extensions thereof, and radiation therapy, depending on the age of the patient.
Palavras-chave : Neurofibromathosis type II; Von Recklinghausen disease type II; Neuroma; Schwannoma; Merlina.