A Rare Report of the Coexistence of Sickle Cell Disease, Neurofibromatosis Type 1, and Intracranial Hypertension in a Pediatric Patient.

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Abstract

A 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.

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