Blue rubber bleb nevus syndrome with CNS involvement and thrombosis of a vein of galen malformation

Abstract

A patient is described with the dermatological features of blue rubber bleb nevus syndrome (BRBNS), focal seizures, and lateralized neurological signs. CAT scan demonstrated a nonenhanced density in the region of the vein of Galen. Neuropathological examination showed that this density was a clot within a vein of Galen malformation. Hemangiomas that grossly resembled the skin lesions of BRBNS were seen on the cerebral surface. Many of these hemangiomas were thrombosed and overlay patchy zones of infarction. Numerous vascular malformations of varying histological types were also found within the brain and systemic organs. Bluish, compressible, often raised hemangiomas of the skin should alert physicians to the BRBNS and the potential for vascular malformations ot occur within the brain as well as systemic organs. Diagnosis of BRBNS involving the brain may assist in interpretation of radiographic findings. The tendency of these malformations to thrombose may account for focal neurological deficits.

Anesthetic Management of Emergency Cesarean Section in a Patient with Congenital Venous Malformation

“…These patients may have thrombocytopenia, altered coagulation profile, and symptoms like anemia because of intestinal bleed and seizure due to CNS compression. 8,9 These lesions are present since birth but may increase in size and frequency with age. 10 Diagnosis of BRBNS is based on cutaneous manifestation with or without systemic involvement.…”

Epidural spinal cord compression in a patient with blue rubber bleb nevus syndrome

“…These skin lesions are vascular malformations that will blanch with pressure. 2,4 Thrombosis of the vascular malformations can occur due to slow blood flow, 18 and flow voids may not be present on imaging. 4 Gastrointestinal vascular malformations are a hallmark and typically present in adolescence, 8,9 and they frequently bleed.…”

“…4 Gastrointestinal vascular malformations are a hallmark and typically present in adolescence, 8,9 and they frequently bleed. 9 The skin vascular malformations are typically present at birth 12 and multiple other organ systems involvement has been described, including muscle, bone, 8,10 central nervous system, 14,15,18 visceral pericardium, 4 thyroid, heart, and lung. 9 Paravertebral muscle involvement can extend to the spinal canal.…”

“…16 Vascular lesions of the central nervous system have included cavernoma, dural arteriovenous fistula, arteriovenous malformations, and vein of Galen thrombosis and malformation. 3,5,16,18 While gastrointestinal hemorrhage and consumptive coagulopathy can be life threatening, 1,14 surveillance for malignancy is important in patients with BRBNS, as medulloblastoma, chronic lymphocytic leukemia, renal cell carcinoma (hypernephroma), and squamous cell carcinoma 9 have been reported. Although most cases of BRBNS are sporadic, autosomal dominant inheritance with linkage to chromosome 9 has been described.…”

Use of Laparoscope as Rigid Enteroscope in Blue Rubber Bleb Naevus Syndrome

“…They commonly occur in the skin, however they may also occur in other locations such as the peritoneal cavity, heart, lungs, pleura, CNS and eyes. [4][5][6] The most common presentation of the condition is with chronic microcytic anaemia from occult bleeding, although acute sudden haemorrhage with malaena or haematochezia can occur. Other complications of the condition include intussussception, volvulus and haematological complications such as thrombocytopenia and disseminated intravascular coagulation.…”