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.