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

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Abstract

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.

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Acknowledgements

This study was supported by Grants-in-Aid for Scientific Research (17K11233, 15K10669, 26670724) from the Ministry of Education, Culture, Sports, Science and Technology of Japan, and from the Japan Society for the Promotion of Science. The authors would like to thank Enago (http://www.enago.jp) for the English language review.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan

    Kazuya Mimura, Masayuki Endo, Takuji Tomimatsu & Tadashi Kimura

  2. Department of Pathology, Osaka Women’s and Children’s Hospital, Izumi, Osaka, Japan

    Keiko Matsuoka & Makoto Takeuchi

  3. Pediatric Surgery, Osaka University Graduate School of Medicine, Suita, Osaka, Japan

    Yuko Tazuke & Hiroomi Okuyama

Authors
  1. Kazuya Mimura
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  2. Masayuki Endo
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  3. Keiko Matsuoka
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  4. Takuji Tomimatsu
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  5. Yuko Tazuke
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  6. Hiroomi Okuyama
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  7. Makoto Takeuchi
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  8. Tadashi Kimura
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Correspondence to Kazuya Mimura.

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This article does not contain any studies with human or animal subjects performed by any of the authors. Written informed consent was obtained from the patient.

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The authors declare that there are no conflicts of interest regarding the publication of this paper.

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Mimura, K., Endo, M., Matsuoka, K. et al. Prenatal findings of serpentine-like syndrome with congenital intrathoracic stomach: differential diagnosis from congenital diaphragmatic hernia. J Med Ultrasonics 46, 263–266 (2019). https://doi.org/10.1007/s10396-018-0896-8

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  • DOI: https://doi.org/10.1007/s10396-018-0896-8

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