Neonatology, AIIMS Raipur, Raipur, Chattisgarh, India
Neonatology, AIIMS Raipur, Raipur, Chattisgarh, India.
BMJ Case Rep. 2024 Jul 29;17(7):e260488. doi: 10.1136/bcr-2024-260488.
A term male baby was born vaginally to a primi mother. An antenatal ultrasound revealed polyhydramnios and a distended stomach in the baby. At birth, the baby had well-defined areas of peeling skin on the face and blisters on the forearm region. The abdominal X-ray revealed a single gastric bubble, which is consistent with pyloric atresia and needs surgery. Pyloroplasty was initially performed, but it was unsuccessful. Therefore, a feeding jejunostomy and gastrostomy were performed. However, the baby developed sepsis and septic shock and died at about 2 months of age. Skin biopsy revealed cleavage above the lamina densa, and genetic analysis indicated heterozygosity in ITGB4 exons 10 and 16, which are associated with epidermolysis bullosa junctionalis and pyloric atresia.
一名男婴经阴道顺产，母亲为初产妇。产前超声显示羊水过多，胎儿腹部膨隆。出生时，婴儿面部有明显的脱皮区域，前臂有水泡。腹部 X 光片显示单个胃泡，符合幽门闭锁，需要手术。行幽门成形术，但不成功。因此，行肠饲空肠造口术和胃造口术。然而，婴儿发生脓毒症和感染性休克，约 2 月龄时死亡。皮肤活检显示板层致密上方分裂，基因分析显示 ITGB4 exon10 和 16 杂合，与交界型大疱性表皮松解症和幽门闭锁相关。
