A death due to complications following late-onset congenital diaphragmatic hernia in a young child

Abstract

Congenital diaphragmatic hernia (CDH) is a rare anatomical birth defect, causing the diaphragm fails to fuse completely, leaving a defect and causing herniation of the abdominal viscera towards the thoracic cavity. Though most cases of CDH are symptomatic and diagnosed in the early stages of life some asymptomatic cases may go undetected and later detect as incidental or may present with respiratory or gastrointestinal symptoms. We report a case of late-onset CDH which leads to a rapidly fatal medical emergency causing challenges in clinical diagnosis. An eight-year-old previously healthy schoolgirl was admitted to a primary care hospital following recurrent upper abdominal pain, nausea, and vomiting for a duration of 3 consecutive days. According to the parents she has taken treatment from a general practitioner. She was afebrile, hypotensive, tachycardic, and drowsy and was found unresponsive during transfer to a tertiary care hospital and was pronounced dead. On opening the thoracic cavity, it was noted that some of the abdominal contents like the entire stomach, duodenum, and proximal part of the small intestine, splenic flexure of the transverse colon were present within the left hemi thorax causing left lung hypoplasia, thoracic midline shift, intestinal compression, and elevated luminal pressure causing gastric erosions and chemical peritonitis. This case highlights the importance of higher clinical vigilance and the value of early diagnosis and timely medical attention to relatively uncommon but surgically correctable conditions like CDH.