Altered cerebrospinal fluid dynamics in neurofibromatosis type l: severe arachnoid thickening in patients with neurofibromatosis type 1 may cause abnormal CSF dynamic

Abstract

INTRODUCTION: The object of this study is to understand abnormal dynamic of cerebrospinal fluid (CSF) in patients with neurofibromatosis type 1 (NF1), which may cause temporal lobe herniation and bulging of temporal fossa.

METHODS: Four patients, three females and one male, with NF1 were studied retrospectively. They presented with a similar craniofacial deformity, which consisted of pulsatile exophthalmos, an enlarged bony orbit, dysplasia of the sphenoid wing with the presence of a herniation of the temporal lobe into the orbit, and a bulging temporal fossa.

RESULTS AND DISCUSSION: Surgical exploration demonstrated abnormally thickened arachnoid membrane in one case. Protruding temporal lobe, which was one of the main symptoms in NF1 patients, could be stopped by control of intracranial pressure (ICP) via programmable ventriculoperitoneal shunt (VPS) or extra ventricle drainage implantation. The dense fibrosis of the arachnoid membrane and consequent altered hemispheric CSF dynamics may cause symptoms including pulsatile exophthalmos and consequent worsening of vision, prolapse of the temporal lobe, and enlargement of the temporal fossa. This finding may not present with general features of hydrocephalus, so that delays in diagnosis often result.

CONCLUSION: For the NF1 patients with cranio-orbito-temporal deformities, prior to any surgical reconstruction, control of increased ICP (IICP) should be primarily considered.