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Foregut duplication cysts in siblings: A case report
Paul L Davis1, Kathleen G Gibson, Adele K Evans
1Medical Center Boulevard, Department of Otolaryngology, 4th Floor Watlington, Winston-Salem, NC 27157, USA. pdavis@wfubmc.edu
Insights
This study reports the first known case of two siblings with foregut duplication cysts in different locations. The findings suggest a possible inherited component for these rare congenital anomalies.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Surgery
Background:
- Enteric duplication cysts are rare congenital anomalies originating from foregut-derived epithelium.
- These cysts can occur anywhere along the digestive tract, from the head to the abdomen.
- Causation remains unclear, with no single embryologic process definitively identified.
Observation:
- A case involving two siblings with foregut duplication cysts is presented.
- One sibling presented with a cyst in the floor of the mouth.
- The other sibling had an esophageal duplication cyst in the thorax.
Findings:
- This is the first reported instance of foregut duplication cysts occurring in siblings.
- The presentation in distinct anatomical locations (head/neck and thorax) is noteworthy.
- The occurrence in close relatives raises questions about potential genetic or inherited factors.
Implications:
- This case challenges the understanding of enteric duplication cyst etiology.
- It highlights the possibility of an inherited predisposition to foregut duplication cysts.
- Further research into the genetic basis of these anomalies is warranted.
Abstract:
Enteric duplication cysts are rare congenital anomalies that result from heterotrophic rests of foregut-derived epithelium in the head, neck, thorax or abdomen. Typically, foregut duplication cysts of the head and neck are diagnosed in asymptomatic children. No single embryologic process has been identified to explain causation. In this case, we report a case of two siblings with foregut duplication cysts-one cyst occurring in the floor of mouth and the other occurring in the thorax as an esophageal duplication. To our knowledge, this is the first report of such an event in the literature. This case raises the question of a possibly inherited foregut cyst versus a spontaneous occurrence in first degree relatives.
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