Periaqueductal Gliosis Causing Hydrocephalus in a Patient With Neurofibromatosis Type 1

Neurofibromatosis. 1989;2(5-6):322-5.


We present a case of primary nontumoral aqueductal stenosis associated with neurofibromatosis type 1 (NF-1) in an asymptomatic 11-year-old boy. The diagnosis of hydrocephalus followed the finding of bilateral papilledema at an ocular assessment and the diagnosis of NF-1 was made during hospitalization for the papilledema. Periaqueductal gliosis was suspected on cerebral T2-weighted magnetic resonance imaging (MRI). We believe that the incidence of hydrocephalus due to nontumoral aqueductal stenosis has been underestimated in NF-1. We emphasize the importance of early diagnosis of NF-1 and prompt evaluation in order to recognize this complication. In this regard MRI scanning offers more diagnostic advantages over other investigations. Forty-seven previously described cases have been collected from the literature.

Publication types

  • Case Reports

MeSH terms

  • Cerebral Aqueduct / pathology
  • Child
  • Gliosis / diagnosis
  • Gliosis / etiology*
  • Humans
  • Hydrocephalus / diagnosis
  • Hydrocephalus / etiology*
  • Magnetic Resonance Imaging
  • Male
  • Neurofibromatosis 1 / complications*