RT Journal Article
SR Electronic
T1 Congenital pyloric atresia associated with epidermolysis bullosa junctionalis: a novel lethal variant
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e260488
DO 10.1136/bcr-2024-260488
VO 17
IS 7
A1 Reddy, M Sai Pratap
A1 Anand, Rohit
A1 Padhi, Phalguni
A1 Katravath, Shirisha
YR 2024
UL http://casereports.bmj.com/content/17/7/e260488.abstract
AB 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.