Prenatal findings of serpentine-like syndrome with congenital intrathoracic stomach: differential diagnosis from congenital diaphragmatic hernia

Congenital rachischisis and brachioesophagus with secondary intrathoracic stomach, which is described as “serpentine-like syndrome”, is a very rare condition. We report the prenatal findings of serpentine-like syndrome in a fetus at 18 weeks of gestation. The stomach was entirely elevated into the thoracic area, but the liver retained its normal position. Our initial diagnosis was isolated left congenital diaphragmatic hernia (CDH). At 20 weeks of gestation, the pregnancy was terminated, and a male newborn weighing 338 g was vaginally delivered. The autopsy findings revealed an extremely short esophagus, and the stomach was located in the posterior mediastinum as a result of congenital esophagus hiatal hernia. A severe case of rachischisis was identified from the cervical to thoracic vertebrae. The prognosis of congenital intrathoracic stomach associated with serpentine-like syndrome is extremely poor compared to the prognosis of isolated CDH. It is difficult to make a definite diagnosis by ultrasound alone; however, atypical findings, such as the presence of the entire intrathoracic stomach despite the normally located liver, may warrant further exploration. Obstetricians and neonatal clinicians presented with similar cases should be alerted to the significance of these prenatal findings and the differences in outcomes to ensure appropriate counseling of parents.