A Rare Report of the Coexistence of Sickle Cell Disease,
Neurofibromatosis Type 1, and Intracranial Hypertension in a Pediatric
AbstractA 8 year-old female with sickle cell disease diagnosed at birth was
confirmed to have neurofibromatosis type 1 at 13 months of age. At 7
years old, she was noted to have incidental papilledema with subsequent
workup showing elevated opening pressure. She was diagnosed with
intracranial hypertension and began treatment with acetazolamide and the
discontinuation of hydroxyurea. Acetazolamide was tapered off and
hydroxyurea was restarted with no worsening in her ophthalmologic exam.
We report this case due to the rare occurrence of all three conditions
as well as delineate the complications that can occur with the
combination of diseases.