Orbital Hemangioma in Bean Syndrome: The Lure of the Red Herring

Abstract

Background: Bean syndrome (BS) is a rare congenital low-flow angiomatosis affecting multiple organ systems. About 200 cases with heterogeneous clinical presentation have been reported worldwide. The exact etiopathology is still not known. Most reported cases have occurred sporadically, although autosomal dominant inheritance has been suggested. BS predominantly presents with characteristic multifocal mucocutaneous lesions and often leads to refractory anemia caused by occult blood loss from the alimentary tract. Apart from the mucocutaneous and gastrointestinal tract involvement, this syndrome may rarely affect the central nervous system in the form of multiple venous anomalies. Patients often approach a dermatologist or gastroenterologist for treatment and this entity is usually less known among neurosurgeons. To the best of our knowledge, only 3 cases of sinus pericranii and 12 cases with orbital hemangioma as a presenting feature in BS have been reported.

Case description: Keeping neurosurgical management of this rare entity in mind, we discuss a case of a young female who presented with congenital naso-orbital swelling with a history of multiple-stage embolization and surgical excision of the orbital mass in her childhood. Now, she presented with recurrent swelling involving the right side of the forehead for cosmetic concerns and was subsequently diagnosed to have BS at 23 years of age.

Conclusions: Blue rubber bleb nevus syndrome is a lesser known entity among neurosurgeons that requires a high index of clinical suspicion for diagnosis. Red herrings, such as in our case, must prompt a search for characteristic mucocutaneous lesions and other associated lesions of blue rubber bleb nevus syndrome. A timely diagnosis may improve the quality of life and help avoid life-threatening complications.

Keywords: Bean syndrome; Low-flow angiomatosis; Mucocutaneous lesions; Orbital hemangioma; Red herring; Refractory anemia; Sinus pericranii.