Blue rubber bleb nevus syndrome of the orbit and gastrointestinal tract

Blue Rubber Bleb Nevus Syndrome Manifesting as an Isolated Congenital Orbital Mass in a Neonate

“…There are currently only 5 published cases of orbital vascular malformations from BRBNS in the pediatric population. 2–6 Three of these cases presented with other manifestations of BRBNS, making the diagnosis apparent. 3–5 In contrast, our patient’s isolated orbital vascular malformation without extra-orbital manifestations led to his delayed diagnosis of BRBNS.…”

“…To our knowledge, there has been a total of 5 published pediatric cases of orbital involvement in BRBNS. 2–6 We describe the complex course of a neonate who presented with an isolated congenital orbital vascular malformation requiring multiple surgical resections throughout childhood. This is the first report of a mass from BRBNS so aggressive that it caused amblyogenic ptosis and orbital bone erosion with subsequent meningoencephalocele requiring a craniotomy.…”