International Medical Case Reports Journal (May 2024)
Lessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?
Abstract
Xiaoqing Wei,1,* Junying Zhang,2,* Youwen Mei,3 Eqiong Li,4 Qianling Dai,1 Xiaoli Yang,1 Dan Luo,5 Biao Li,6 Ping Hua,7 Jian Cai,7 Hua Lai,8 Dongfeng Qi,9 Sha Lai,10 Mi Qin,11 Yonghong Lin4 1Department of Cervical Disease and Cervical Cancer Prevention and Treatment, Chengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People’s Republic of China; 2Clinical Laboratory Department, Chengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People’s Republic of China; 3Department of Reproduction and Infertility, Chengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People’s Republic of China; 4Department of Gynecology, Chengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People’s Republic of China; 5Department of Obstetrics, Chengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People’s Republic of China; 6Department of Neonatal Intensive Care Unit, Chengdu Women’ and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People’s Republic of China; 7Department of Pathology, Chengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People’s Republic of China; 8Department of Radiation and Interventional Therapy, Chengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People’s Republic of China; 9Department of Ultrasonics, Chengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People’s Republic of China; 10Dermatology Department, Chengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People’s Republic of China; 11Department of Pediatric Surgery, Chengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, People’s Republic of China*These authors contributed equally to this workCorrespondence: Yonghong Lin; Xiaoqing Wei, Email [email protected]; [email protected]: 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
