Introduction
Neurofibromatosis type 1 (NF1), also called von Recklinghausen’s disease, is a common neurocutaneous disorder that is caused by inheritance or a de novo mutation. The mutation occurs in the protein, neurofibromin, which functions similarly to a tumor suppressor gene. Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy caused by a single gene mutation in beta globin. SCD is one of the most common red blood cell disorders with an approximate incidence of one out of 365 African Americans born each year.
The co-existence of SCD and NF1 is rare with only two reported cases1-2.  One report was in a 15 year old patient who developed an optic glioma, renal artery stenosis, large facial plexiform neurofibromas, and bilateral lower extremity osteomyelitis1. The other report was in a 28 year old who had multiple cutaneous neurofibromas, lisch nodules, splenomegaly, hyperbilirubinemia, and pulmonary tuberculosis2.
Individuals with NF1 have been reported to have intracranial hypertension (IH) caused only by mass or stenosis3. Cases of IH have been reported in individuals with sickle cell disease thought to be mostly caused by increased fetal hemoglobin concentration from hydroxyurea4-5. The current report of a patient presenting with SCD, NF1 and IH has never been reported.