Female, 20 years old, 27 weeks gestational age, with prenatal ultrasound demonstrating omphalocele and splaying of the sacral vertebrae with suggestion of a mass in this area. A defect is evident within the posterior elements of the lower lumbar and sacral spine. A septated cystic lesion contiguous with the thecal sac projects through this defect at midline and just to the right of midline. The low lying spinal cord enters the cystic lesion and terminates within a network of septations or fibrous strands. The cystic lesion appears to be covered externally by a relatively thick membrane. No evidence of a lipoma or other soft tissue mass is seen.A defect in the ventral abdominal wall is evident with herniation of liver and bowel loops. Most if not all of the liver is extra-abdominal. Numerous dilated bowel loops are present both extra-abdominally and intra-abdominally. Several of the dilated intra-abdominal loops likely represent colon, and these can be followed back to a diminutive rectosigmoid. T1 bright meconium, an expected finding at this gestational age, is not visualized. The kidneys are normal in appearance. The urinary bladder is difficult to accurately visualize but may be present.On incidental views of the brain, the morphology of the frontal horns is suggestive of agenesis or partial agenesis of the corpus callosum. In addition, the right ventricular atrium is top normal in size measuring 10 mm.
1.Findings are seen compatible with a myelomeningocele of the lumbosacral spine. No evidence is detected to suggest the presence of a lipoma, teratoma or other soft tissue mass.2.A ventral abdominal wall defect is present with herniation of liver and bowel compatible with omphalocele. Most if not all of the liver is extra abdominal. In addition, multiple dilated bowel loops are present which can be followed back to a diminutive rectosigmoid. Normal T1 bright meconium is not identified.3.The combination of myelomeningocele and omphalocele raises the possibility OEIS complex. Furthermore, the presence of multiple dilated bowel loops suggests distal obstruction. Given that the dilated loops can be followed to a diminutive rectosigmoid, Hirschsprung's disease would be a consideration.4.Findings are seen on the incidentally visualized brain suggesting agenesis of the corpus callosum. Please note that this examination was not specifically tailored for assessment of the brain, and therefore, a definitive diagnosis is not possible based on these limited images. Correlation with future sonograms may be helpful.