Neurofibromatosis type 1–related hydrocephalus: causes and treatment considerations

The prevalence of hydrocephalus among patients with neurofibromatosis type I (NF1) is estimated to be between 1 and 13%. Most hydrocephalic causes are obstructive—aqueductal webs, chiasmatic-hypothalamic tumors, and thalamic mass effect related to NF changes. Other NF1-related conditions may mimic the clinical presentation of hydrocephalus and should be ruled out while evaluating children with headaches. These include brain tumors and moyamoya syndrome. Treatment of NF1-related hydrocephalus should be personally tailored, including tumor resection or debulking, shunts, and endoscopic procedures such as septostomy and third ventriculostomy. Despite these personalized treatments, many of the primary treatments (including shunts and endoscopic procedures) fail, and patients should be screened and followed accordingly. In the current manuscript, we review the causes of NF1-related hydrocephalus, as well as treatment options.