First report of coexistence of sickle cell disease and neurofibromatosis Type 1 in a Saudi patient with family history of neurofibromatosis Type 1

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

“…Both NF1 and SCD individually may cause unique complications that, as in this case and others, when combined can be worsened 3,4. NF1 has been shown to increase the risk of peripheral and cerebral vascular abnormalities.…”

“…Sickle cell disease (SCD) is one of the most common autosomal recessive hemoglobinopathies and is caused by a single gene mutation in beta globin 2. The coexistence of SCD and NF1 is rare, with only 2 reported cases 3,4…”

“…2 The coexistence of SCD and NF1 is rare, with only 2 reported cases. 3,4 Individuals with NF1 have been reported to have intracranial hypertension (IH) caused only by a mass or stenosis. 5 Cases of IH have been reported in individuals with SCD.…”