A case report of serpentine-like syndrome and review of literature

• Main Authors: Shijing Song (Author), Jingjing Wang (Author), Jijing Han (Author), Yinghua Xuan (Author), Wenxue Zhi (Author), Qingqing Wu (Author)
• Format: Book
• Published: BMC, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.1186/s12884-022-04477-6; 1471-2393
• Keywords: Serpentine-like syndrome; Intrathoracic stomach; Brachioesophagus; Vertebral deformity; Case report; Gynecology and obstetrics; RG1-991
• Source: BMC Pregnancy and Childbirth, Vol 22, Iss 1, Pp 1-7 (2022)

Abstract Background Serpentine-like syndrome (SLS) is a rare foetal abnormality, characterized by brachioesophagus, secondary intrathoracic stomach and vertebral deformity. Herein, we report a case of SLS diagnosed based on imaging, genetic examination and autopsy findings. Case presentation From the 19th to 23rd weeks of gestation, the foetus presented with brachioesophagus, secondary intrathoracic stomach, intrathoracic spleen with poly-spleen malformation, spinal deformity and diaphragm dysplasia, and some abdominal organs were partly located in the thoracic cavity. After extensive counselling, the couple opted to terminate the pregnancy. Whole genome sequencing and autopsy were performed. Then, the foetus was diagnosed with SLS. Discussion and conclusions SLS is characterized by multiorgan deformities and is associated with poor prognosis. Multiorgan deformities can be detected on prenatal sonography using three-dimensional ultrasound technology.