A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome.

BACKGROUND: Ehlers-Danlos syndrome is a group of inherited connective tissue diseases demonstrating autosomal-dominant, autosomal-recessive, and X-linked inheritance patterns. The diagnosis can be established by clinical, biochemical, and genetic findings. CASE: Our nulliparous patient presented with an unspecified diagnosis of Ehlers-Danlos syndrome. Laboratory testing confirmed the kyphoscoliotic type. Based on clinical and phenotypic similarities with the vascular type of Ehlers-Danlos syndrome, termination was advised. Minor trauma in the third trimester led to delivery of a stillborn fetus, which was followed by disseminated intravascular coagulopathy and death of the mother. Maternal autopsy revealed that there had been a spontaneous rupture of the right iliac artery. CONCLUSION: Practitioners should be aggressive in recommending effective birth control in patients with the kyphoscoliotic form of Ehlers-Danlos syndrome. In cases of established pregnancy, patients should be made fully aware of their risks of death and severe complications.

Nutritional supplementation in monochorionic diamniotic twin pregnancies: impact on twin-twin transfusion syndrome.

Twin-to-twin transfusion syndrome (TTTS) has been related to unbalanced unidirectional arteriovenous anastomoses in the placenta of monochorionic diamniotic (DiMo) twin gestations. As maternal malnutrition accounting for hypoproteinemia and anemia has been detected in severe cases of TTTS, the purpose of this study was to evaluate the impact of early diet supplementation on TTTS. Fifty-one DiMo twin pregnancies were given commercially available oral nutritional diet supplements and then compared in a retrospective cohort study to 52 twin gestations with the same chorionicity but not subjected to nutritional supplementation. Diet supplementation was associated with lower overall incidence of TTTS (20/52 versus 8/51, P = 0.02) and with lower prevalence of TTTS at delivery (18/52 versus 6/51, P = 0.012) when compared with no supplementation. Nutritional intervention also significantly prolonged the time between the diagnosis of TTTS and delivery (9.4 +/- 3.7 weeks versus 4.6 +/- 6.5 weeks; P = 0.014). The earlier nutritional regimen was introduced, the lesser chance of detecting TTTS ( P = 0.001). Although not statistically significant, dietary intervention was also associated with lower Quintero stage, fewer invasive treatments, and lower twin birth weight discordance. Diet supplementation appears to counter maternal metabolic abnormalities in DiMo twin pregnancies and improve perinatal outcomes in TTTS when combined with the standard therapeutic options.

Plasma exchange in a case of severe factor X deficiency in pregnancy: critical review of the literature.

Hereditary factor X deficiency represents an uncommon challenge in pregnancy. A 30-year-old primigravida affected by severe factor X deficiency was followed from 6 weeks of gestation until delivery. Factor X was provided prior to delivery for the first time in pregnancy via plasma exchange. The pregnancy and postpartum period were not complicated by bleeding episodes; therefore this approach was accompanied by lower cost and fewer side effects when compared with fresh-frozen plasma and prothrombin complex concentrates infusion, two therapeutic options already used in pregnancy.

Pulmonary synovial sarcoma presenting as a pneumothorax during pregnancy.

BACKGROUND: Synovial sarcoma is a clinically rare, but morphologically well-defined neoplasm, which accounts for approximately 10% of all malignant soft-tissue tumors. The diagnosis can be established with clinical and imaging evaluations together with immunohistochemical, electron microscopy, and molecular genetic studies. CASE: We describe a case of primary pulmonary synovial sarcoma presenting as a pneumothorax in a young woman at 34 weeks of gestation. Her persistent symptomatology ultimately led to a video-assisted thoracoscopy and thorascopic decortication. The diagnosis was established by pathology and immunohistochemistry of the cells, which were consistent with primary pulmonary synovial sarcoma. CONCLUSION: Malignancies, even those as uncommon as primary synovial sarcoma, should be considered in the differential diagnosis of pneumothorax during pregnancy.