Familial jejunal atresia with 'apple-peel' variant

Area of Science:

• Pediatric Surgery
• Medical Genetics
• Gastroenterology

Background:

• Jejunal atresia is a congenital obstruction of the small intestine.
• Familial occurrence of jejunal atresia is rare, suggesting potential genetic factors.
• Consanguinity in parents has been linked to increased incidence of rare genetic disorders.

Observation:

• Two siblings presented with jejunal atresia.
• The parents of the affected siblings were first cousins (consanguineous).
• The first sibling exhibited jejunal atresia with mesenteric agenesis and an 'apple-peel' intestinal malformation.
• The second sibling had jejunal atresia with a distinct V-shaped mesenteric defect.

Findings:

• The clinical presentation and familial pattern suggest a hereditary basis for jejunal atresia in this family.
• The specific mesenteric defects observed in each sibling may represent variable expressivity of a shared genetic mutation.
• Review of existing literature indicates a limited number of reported familial cases of small intestinal atresia.

Implications:

• This case highlights the importance of considering familial and genetic factors in jejunal atresia.
• Genetic counseling may be beneficial for families with a history of jejunal atresia, especially with consanguinity.
• Further research into the genetic underpinnings of jejunal atresia could improve diagnostic and therapeutic strategies.