CASE REPORTA 31-year-old patient was referred to our prenatal diagnostic center at 24 weeks of amenorrhea because of an abnormal intra-abdominal image on ultrasound examination. Her medical history notably included mixed connective tissue disease, requiring treatment with hydroxychloroquine, corticoids and aspirin.Ultrasound examination at 12 weeks' gestation was normal, as were the serum marker tests for the risk of trisomy 21 taken in the second trimester. At 24 weeks, a routine ultrasound examination revealed a round, midline intra-abdominal thin-walled mass, 21 mm in diameter, located below the liver. These findings were confirmed at repeat ultrasound examination at 28 weeks (Figure 1). Color Doppler ultrasound examination showed venous-type turbulent flow inside the mass. Connections with the portal vein upstream (Figure 1) and the umbilicus downstream (Figures 2 and 3) were visualized. The suggested diagnosis was that of umbilical vein varix. No other abnormalities were found. Uterine and umbilical artery Doppler were normal. Doppler ultrasound imaging of the ductus venosus showed a slight acceleration in blood flow velocity (0.8-0.9 m/s), possibly indicating increased resistance in the portal venous system. Amniocentesis followed by karyotype analysis revealed a normal 46,XY karyotype.Follow-up ultrasound examinations were carried out at 15-day intervals and revealed a gradual increase in the size of the vein (30/40 mm at 25 weeks', 35/48 mm at 28 weeks' and 36/54 mm at 32 weeks' amenorrhea respectively), with no sign of heart failure or velocimetric changes.The patient delivered a 2100-g boy vaginally at 34 + 3 weeks' gestation, with Apgar scores of 8, 10 and 10 at 1, 5 and 10 min respectively, and an umbilical cord pH of 7.26. No immediate resuscitation procedures were needed. Anatomical and pathological examination of the placenta revealed no abnormalities.On the first postnatal day the newborn developed isolated thrombopenia (25 000 platelets/mm 3 ) requiring

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We report the fourth case of combined D-and L-2-hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts.

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Digestive volvulus affects the stomach, small bowel and mobile segments of the colon and often has a developmental cause. Reference radiologic examinations include upper gastrointestinal contrast series for gastric volvulus, possibly with ultrasonography for small-bowel volvulus, and contrast enema for colonic volvulus. Treatment is usually surgical. This pictorial essay describes the embryological development and discusses the clinical and radiologic presentation of volvulus, depending on location, and details the appropriate radiologic examinations.