Título

FULL HOUSE IN NF2

Introdução / Purpose

Multidisciplinary study of a clinical case

Material e Método / Methods

A 13-year-old patient came to the Department due to a Neurology referral.
Normal reflex and eye movements. Orthotrophy.
VA: best corrected OD 10/10 OS 5/10 distant; OD 20/20 OS 20/40 near.
BMC and IOP: normal
Funduscopy : OU attached retina, net edge pink papilla, increased macular bright, whitish juxtapapilar retinal damage with papilomacular beam condition in OS, normal periphery and vessels .

Resultados / Results

The condition was interpreted as retinal hamartoma damage. Imaging and referral to ERT and Neurosurgery were requested.
Audiometry: moderate bilateral hearing loss with soothed central conduction as a consequence of the caudal segment in the right ear and caudal and cephalic prolongation in the left ear.
MRI: Meningiomas in the temporal region and left cerebellopontine angle. Bilateral Acoustic Neuroma, laterocervical tumor formation. The biopsy result was compatible with Schwannoma

Discussão e Conclusões / Discussion

The patient meets the Major Diagnostic Criteria for Neurofibromatosis TYPE 2. This disorder is due to autosomal dominant inheritance, with a prevalence of 1 in 60,000. The disease is caused by a mutation of NF2 gen of chromosome 22. More than 50% of the cases are caused by de novo mutations in patients without family history.
NF2 causes the development of tumors in the nervous system, predominantly schwannomas (70%), followed by meningiomas (50%) and ependimomas. In general, schwannomas bilaterally affect the eighth cranial nerve, causing sensorial hearing loss. Meningiomas generally affect younger patients and represent a significant cause of morbimortality.
Ocular manifestations appear in 80% of the patients as eye cataracts, retinal hamartomas and optic nerve gliomas.

Palavras Chave

PEDIATRIC
NEUROFIBROMATOSIS
RETINA

Area

CLINICAL RETINA