Presentation
Orbital hemorrhage with proptosis
Patient Data
Head CT with thin-slice multiplanar reformation of the orbits
Lateral extraconal retrobulbar hemorrhage on the right, displacing the extraocular muscles, conal structures and optic nerve medially, and the eyeball anteriorly. The hemorrhage most probably originates from an intraorbital venous malformation seen on a previous contrast-enhanced CT of the orbits (not shown).
Numerous venous malformations scattered throughout the head and neck, some with accompanying phleboliths, affecting the orbits, parotid glands, cutaneous and subcutaneous tissues, and essentially all spaces of the head and neck.
Left temporal craniectomy.
Due to worsening anemia, the patient underwent capsule endoscopy and abdominal CT (arterial phase not shown). The site of gastrointestinal bleeding was not demonstrated. Gastroenteroscopy was performed, wherein two sessile lesions (blebs) were seen in the duodenum and cauterised.
Innumerable venous malformations infiltrating subcutaneous tissue, muscles (e.g. right gluteus medius and iliacus) and abdominal and pelvic spaces, including between bowel loops, intramural, retroperitoneum, and extraperitonum. No clear evidence of gastrointestinal hemorrhage.
Three hypodense hepatic lesions with nodular centripetal enhancement (arterial phase not shown) in segments 3, 5, and 6 - hepatic hemangiomas. Small hypodense nodule in pancreatic body which could represent a tiny venous malformation, inter alia.
Endoscopy capsule in rectum.
Case Discussion
Blue rubber bleb nevus syndrome (BRBNS) is an extremely rare, mostly sporadic, condition. Exemplified in this case are the multiple venous malformations and associated spontaneous bleeding. The most common site of bleeding is the small bowel, which can be either occult or frank, even massive. In case of worsening anemia or bloody stools, BRBNS patients undergo further diagnostic and therapeutic imaging examinations (CT enterography, Tc 99m-labeled RBC SPECT, capsule endoscopy, gastro-entero-colonoscopy, and angiography). In certain cases, surgery must be performed to control bleeding.
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