Brain Herniation in Neurofibromatosis with Dysplasia of Occipital Bone and Posterior Skull Base

Abstract EN

A 22-year-old female, a known case of neurofibromatosis 1 (NF1), presented with a congenital swelling in the left occipital region.

She had developed recent onset dysphagia and localized occipital headache.

Neuroradiology revealed a left occipital meningoencephalocele and a left parapharyngeal meningocele.

This was associated with ventriculomegaly.

She was advised on cranioplasty along with duraplasty which she denied.

She agreed to a lumbar-peritoneal shunt.

She described a dramatic improvement in her symptoms following the lumbar-peritoneal shunt.

Occipital dysplasias, though uncommon, have been reported in the literature.

We review this case and its management and discuss relevant literature on occipital dysplasias in NF1.