Small left colon syndrome in 3 sisters.

Area of Science:

• Pediatric Surgery
• Neonatal Medicine
• Gastroenterology

Background:

• Neonatal small left colon syndrome is a rare condition causing bowel obstruction in newborns.
• Its exact etiology is unknown, though maternal diabetes is a recognized associated factor.
• Familial cases are exceptionally rare, with only two sets of twins previously reported.

Observation:

• This report details three consecutive sisters diagnosed with small left colon syndrome.
• The mother of these affected siblings had no history of diabetes.
• This observation contrasts with the known association between maternal diabetes and the syndrome.

Findings:

• The occurrence of small left colon syndrome in three consecutive siblings suggests a potential genetic predisposition.
• The absence of maternal diabetes in this cohort further supports a non-diabetic etiology.
• This familial clustering challenges the established understanding of the syndrome's origins.

Implications:

• The findings prompt a re-evaluation of the etiology of small left colon syndrome, highlighting a possible genetic component.
• Further research into genetic factors may be warranted for understanding and potentially predicting this rare neonatal condition.
• This case series could influence diagnostic approaches and genetic counseling for families with recurrent cases.