Duodenal atresia with familial apple peel syndrome: case study with review of literature.

• 发表时间: Aug 2019 26
• 来源期刊: BMJ Case Rep
• DOI: 10.1136/bcr-2019-230160
• PMID: 31451461
• 文章类型: Case Reports
• 作者列表: Kirtane JM,Bhange SA,Nabi F,Shah V

关键词: congenital disorders; neonatal and paediatric intensive care; paediatric surgery

Mesh: Adult; Diagnosis, Differential; Digestive System Surgical Procedures / methods; Duodenal Obstruction / diagnosis etiology physiopathology surgery; Duodenum / abnormalities diagnostic imaging surgery; Female; Humans; Infant, Newborn; Intestinal Atresia / diagnosis genetics physiopathology surgery; Jejunostomy / methods; Jejunum / abnormalities diagnostic imaging surgery; Medical History Taking; Neonatal Sepsis / diagnosis etiology therapy; Parenteral Nutrition, Total / methods; Pregnancy; Prenatal Diagnosis / methods; Rare Diseases / diagnosis; Siblings; Treatment Outcome

Abstract

This is a case report of a neonate who was antenatally diagnosed with jejunal atresia which turned out to be duodenal atresia with apple peel syndrome. A previous sibling, who also had apple peel but with jejunal atresia, succumbed to sepsis after surgery. The first sibling had jejunal stenosis and had died of sepsis following surgery. Combination of duodenal atresia with apple peel is extremely rare. This coupled with a familial condition is rarer still. This case was challenging due to the short length of the gut and prolonged need for total parenteral nutrition and sepsis in postoperative period.