Clinical and neurological findings of a patient with type 2 neurofibromatosis

Context: Neurofibromatosis type 2 (NF2) is an autosomal dominant genetic disease that predisposes to tumors development, especially schwannomas involving vestibular nerves. Case report: A 13-year-old girl, a couple’s daughter with no cases of genetic diseases in the family, had photophobia and recurrent left eye paralysis since she was 5 years old. At 11, she had dizziness at rest and on moving. Physical exam showed a lack of balance, weakness in the legs and bilateral papilledema. Cranial computed tomography revealed a bilateral vestibular nerve schwannoma. The increase in tumor volume led to obstructive hydrocephalus and hypertensive signs. She evolved with vision loss and magnetic resonance imaging showed ventricular dilation, thus she underwent endoscopic third ventriculostomy. The patient reported a gradual worsening of balance when walking and episodes of sporadic headache, progressing to seizures treated with valproic acid. Ophthalmological evaluation revealed vision loss and small bilateral scotoma in campimetry. She reported occasional ear pain and audiometry showed mild bilateral hearing loss. A surgery plan was performed for tumor resection. Conclusions: The clinical findings and complementary exams were compatible with the diagnosis of NF2, which required ventricular shunt and indication for tumor removal, according to disease progression. Thus, these patients must be monitored, due to symptoms progression as well as oriented to family recurrence possibility.