Lessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?

Abstract

Objective

We report a case of Carmi Syndrome in a neonate.

Aim

To share our lessons in diagnosis of the case of Carmi Syndrome.

Case Report

Carmi Syndrome is an extremely rare autosomal recessive genetic disorder characterized the coexistence of pyloric atresia and junctional epidermolysis bullosa, and with aplasia cutis congenita in approximately 28% patients. In this case, a full-term male neonate was born to a G₄P₂⁺¹L¹ multipara through cesarean section delivery in hospital in a non-consanguineous marriage with 4000mL of II°meconium-stained amniotic fluid. He was found extensive skin loss over lower legs and other parts, with scattered blisters and bilateral microtia. Plain abdominal X-ray revealed a large gastric air bubble with no gas distally. The mother had an intrauterine fetal loss previously for reasons unknown. The dermatologist diagnosed the newborn with Bart Syndrome, while the pediatric surgeon diagnosed congenital pyloric atresia(CPA). The parents refused further treatment and the neonate passed away about 30 hours after birth.

Outcome

The neonate passed away about 30 hours after birth.

Conclusion

Lessons from this case:①.Rule out Carmi Syndrome in patients with PA, and differentiate Bart syndrome and Carmi Syndrome in patients with abnormal skin manifestations. ②. For rare and/or severe diseases, multidisciplinary teams(MDTs) should be establish. ③. Genetic counseling and prenatal diagnosis are necessary prior to subsequent childbearings. ④.Termination of pregnancy might be contemplated if certain indicators are revealed.

Keywords:

• Carmi syndrome
• bart syndrome
• epidermolysis bullosa
• EB
• junctional epidermolysis bullosa
• JEB
• congenital pyloric atresia
• CPA
• aplasia cutis congenita
• ACC
• congenital localized absence of skin
• CLAS
• pyloric atresia
• PA
• epidermolysis bullosa with pyloric atresia
• EB-PA
• multidisciplinary teams
• MDT

Ethics Statement

The study was approved by the ethics committee of Chengdu Women’s and Children’s Central hospital (V1.0 2023103).

Declaration of Patient Consent

Written informed consent was obtained from the guardian of the patient for publication of this case report and any accompanying images.

Acknowledgment

We would like to thank our patient and his family for their cooperation in this research. We thank Conghong Fan of Obstetrics department and Biao Li, Pingxiu Xiao of NICU for providing images and professional consultation. We appreciate assistance of departments of Dermatology, Pediatric Surgery, Ultrasonography, and Interventional Radiography. Xiaoqing Wei and Junying Zhang contributed equally as first authors.

Disclosure

The authors declared that they had no conflicts of interest to this work.

Additional information

Funding

This manuscript was not funded.