Periaqueductal gliosis causing hydrocephalus in a patient with neurofibromatosis type 1.
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.
Balestrazzi
P
P
Department of Pediatrics, University of Parma, Italy.
de Gressi
S
S
Donadio
A
A
Lenzini
S
S
D002535:Cerebral Aqueduct / Q000473:pathology; D002648:Child; D005911:Gliosis / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000209:etiology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications*