Congenital pyloric atresia associated with epidermolysis bullosa junctionalis: a novel lethal variant.
BMJ Case Rep
; 17(7)2024 Jul 29.
Article
en En
| MEDLINE
| ID: mdl-39074943
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Píloro
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
BMJ Case Rep
Año:
2024
Tipo del documento:
Article
País de afiliación:
India