PDF(Pubmed)
Abstract：
UNASSIGNED: We report a case of Carmi Syndrome in a neonate.
UNASSIGNED: To share our lessons in diagnosis of the case of Carmi Syndrome.
UNASSIGNED: 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.
UNASSIGNED: The neonate passed away about 30 hours after birth.
UNASSIGNED: 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.
UNASSIGNED: To share our lessons in diagnosis of the case of Carmi Syndrome.
UNASSIGNED: 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.
UNASSIGNED: The neonate passed away about 30 hours after birth.
UNASSIGNED: 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.
摘要：
■我们报告一例新生儿Carmi综合征。
■分享我们在Carmi综合征病例诊断方面的经验教训。
Carmi综合征是一种极其罕见的常染色体隐性遗传病，其特征是幽门闭锁和交界性大疱性表皮松解症并存，大约28％的患者患有先天性皮肤发育不全。在这种情况下,一名足月男性新生儿在医院通过剖宫产分娩出生到G4P2+1L1经产妇,与4000mLII°胎粪染色羊水非血缘婚姻.他被发现小腿和其他部位大面积皮肤脱落，有分散的水疱和双侧小耳畸形。腹部X线平片显示胃气泡大，远端无气体。由于未知原因，母亲先前有宫内胎儿丢失。皮肤科医生诊断新生儿患有巴特综合症,而儿科外科医生诊断为先天性幽门闭锁（CPA）。父母拒绝进一步治疗，新生儿在出生后约30小时去世。
■新生儿出生后约30小时死亡。
■这个案例的教训：①。排除PA患者的Carmi综合征，并区分Bart综合征和Carmi综合征患者的皮肤异常表现。②.对于罕见和/或严重的疾病，应建立多学科小组（MDT）。③.在随后的生育之前，遗传咨询和产前诊断是必要的。④.如果发现某些指标，则可以考虑终止妊娠。
■分享我们在Carmi综合征病例诊断方面的经验教训。
Carmi综合征是一种极其罕见的常染色体隐性遗传病，其特征是幽门闭锁和交界性大疱性表皮松解症并存，大约28％的患者患有先天性皮肤发育不全。在这种情况下,一名足月男性新生儿在医院通过剖宫产分娩出生到G4P2+1L1经产妇,与4000mLII°胎粪染色羊水非血缘婚姻.他被发现小腿和其他部位大面积皮肤脱落，有分散的水疱和双侧小耳畸形。腹部X线平片显示胃气泡大，远端无气体。由于未知原因，母亲先前有宫内胎儿丢失。皮肤科医生诊断新生儿患有巴特综合症,而儿科外科医生诊断为先天性幽门闭锁（CPA）。父母拒绝进一步治疗，新生儿在出生后约30小时去世。
■新生儿出生后约30小时死亡。
■这个案例的教训：①。排除PA患者的Carmi综合征，并区分Bart综合征和Carmi综合征患者的皮肤异常表现。②.对于罕见和/或严重的疾病，应建立多学科小组（MDT）。③.在随后的生育之前，遗传咨询和产前诊断是必要的。④.如果发现某些指标，则可以考虑终止妊娠。
