Neurofibromatosis type 2: case report in childhood
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Abstract
Introduction: neurofibromatosis type 2 is an autosomal dominant disease, caused by
a mutation in the NF2 gene located on chromosome 22q12.2, which encodes the neu
rofibromin-2 protein, also called merlin. Clinically, the disease is characterized by multiple
tumors of the central nervous system, predominating schwannomas, meningiomas and
ependymomas. Cases of this disease in children are rarely described in the first year of life. Objective: describe the case of a patient in the pediatric age group where the anamnesis and detailed physical examination contributed to the early diagnosis of neurofibromatosis type 2. Case description: a 7-year-old female patient, hospitalized with an initial diagnosis of vestibular syndrome secondary to acute otitis media. During hospitalization and clinical evolution, the appearance of horizontal-vertical nystagmus and anisocoria with mydriasis led to further investigation of the case and the early diagnosis of neurofibroma tosis type 2. Discussion: neurofibromatosis type 2 disease, characterized by tumors of the central nervous system, may also present eye lesions, including an early onset cataract, optic nerve sheath tumors, hamartomas and retinal membranes. To this date, there are still restrictions to establish the clinical criteria regarding the sensitivity to diagnose all the individuals actually affected by the disease. This consideration is particularly important in children, who may not yet have all the clinical manifestations that would allow the diagnosis, requiring clinical and imaging follow-up and, eventually, an evolutionary diagnosis.
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