Venous malformations of the anterior abdominal wall in blue rubber bleb naevus syndrome: implications for antenatal and intrapartum management

Abstract

Summary: Blue rubber bleb naevus syndrome (BRBNS) is a rare vascular disorder characterized by rubbery blue -purple cutaneous nodules that are histologically thin-walled dilated vascular spaces. The exact inheritance of the disease in unknown but in cases of familial recurrence, there appears to be a pattern of autosomal dominant inheritance. The vascular lesions may manifest in any organ system but tend to predominate in the gastrointestinal tract (GI). There are only a handful of cases reported in the literature, but reported complications arising from the naevi include sponatenous GI bleeding requiring laparotomy and blood transfusion and the development of large naevi in the cervix thus preventing vaginal delivery. In this case we describe a patient with known BRBNS who developed symptomatic anaemia during her pregnancy which required antenatal admission and blood transfusion. She was managed expectantly in a multidisciplinary setting by obstetricians, gastroenterologists and an obstetric physician with the aim of a vaginal delivery. Nevertheless, she had an elective caesarean section at term for breech presentation. Surgery was complicated by the unexpected finding of venous malformations within the abdominal wall musculature and subcutaneous fat that resulted in a primary haemorrhage and required urgent blood transfusion. The patient made a good postoperative recovery and had a healthy male infant who at birth displayed no external features of BRBNS. This report demonstrates for the first time the appearance of naevi in the abdominal wall and the important considerations that need to be made regarding mode of delivery and future pregnancies.Keywords: maternal-fetal medicine, high-risk pregnancy, clinical genetics CASE REPORTBlue rubber bleb naevus syndrome (BRBNS) is a rare genetic disorder of which familial recurrences consistent with autosomal dominant inheritance have been reported. The condition is characterized by multifocal, rubbery, blue -purple cutaneous nodules whose histology appears as thin-walled dilated vascular spaces. These slow-flow vascular malformations can occur in other organs, particularly the small bowel where they predispose to gastrointestinal (GI) bleeding. Lesions can also occur in other organs and tissues, including brain and muscle, and patients are at risk of thrombocytopenia and consumptive coagulopathy.1,2 We report the management of a patient with known BRBNS in whom vascular lesions in the anterior abdominal wall resulted in unexpected blood loss during delivery by caesarean section.Our patient was diagnosed with BRBNS in childhood when she presented with increasing numbers of small, blue cutaneous naevi at the age of four months (Figure 1). Prior to adulthood she underwent abdominal surgery for GI bleeding from small-bowel vascular malformations on two occasions and had further surgery for bowel obstruction secondary to abdominal adhesions. At the age of 18 years, she had a magnetic resonance imaging (MRI) brain scan that was normal. Thereafter, she remained well until age...

Blue Rubber Bleb Nevus Syndrome in the Obstetric Patient: A Case Report of Anesthetic Implications and Management

“…1,3,5 Approximately 200 cases of BRBNS have been described in the literature, 1,5 of which 11 cases are reported in pregnant women. [2][3][4][5][6][7][8][9][10][11][12] To our knowledge, this is the first report of BRBNS describing intracranial, airway, epidural, and birth canal involvement in the same parturient.…”

A multidisciplinary approach to caring for a pregnant patient with blue rubber bleb nevus syndrome: A case report

“…Literature on the management of BRBNS in pregnancy is rare. Documented complications of BRBNS in pregnant patients have included involvement of the vaginal vault prohibiting a vaginal delivery [ 5 ], airway and neuraxial compromise with contraindications to epidural anesthesia [ 6 ], pulmonary embolism [ 7 ], severe GI bleeding requiring laparotomy and small bowel resection [ 8 ], acute intestinal intussusception complicated by postoperative disseminated intravascular coagulation [ 9 ], anterior abdominal wall involvement resulting in hemorrhage during cesarean delivery [ 17 ], and hemorrhage and consumptive coagulopathy of the affected neonate [ 10 ]. Because of the breadth of potential complications associated with BRBNS, a multidisciplinary approach to prenatal and intrapartum care is necessary.…”