Neurofibromatosis Type 1-Related Hydrocephalus: Treatment Options and Considerations

Objective: Neurofibromatosis type I (NF1) will be associated with hydrocephalus in ≤13% of cases. Currently, very little data are available describing the actual etiologies and treatment options of NF1-associated hydrocephalus. We, therefore, have described our experience in treating NF1-associated hydrocephalus. Methods: We completed a retrospective data analysis of 1020 patients with NF1 treated at the Gilbert's Israeli International Neurofibromatosis Center during a period of 20 years. The patients presenting with, and treated for, related hydrocephalus were included. The clinical, radiological, and surgical data are presented. Results: We included 22 patients (2.1% of the entire NF1 patient cohort), with 17 aged <19 years. Twenty patients had obstructive hydrocephalus. The most common etiologies included aqueductal or third ventricular obstruction. Of the 22 patients, 15 had underwent endoscopic procedures (14 third ventriculostomies) and 7 had undergone shunt procedures. The corresponding failure rates (including the need for additional cerebrospinal fluid procedures) were 60% and 71%. Conclusions: Hydrocephalus in the context of NF1 has been caused mostly by obstructive etiologies. A tailored treatment approach is recommended to address the specific etiology. Regardless of the treatment approach, a relatively high rate of failure has been described.