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Familial ileal perforation: prenatal diagnosis and postnatal follow-up
D Chitayat1, S Grisaru-Granovsky, G Ryan
1Prenatal Diagnosis Program, Toronto Hospital-General Division, Ontario, Canada.
Insights
Two siblings presented with prenatal meconium peritonitis and terminal ileum perforation. This rare condition in siblings suggests a potential autosomal recessive genetic disorder.
Area of Science:
- Pediatric Surgery
- Medical Genetics
- Fetal Medicine
Background:
- Meconium peritonitis is a serious fetal condition often caused by intestinal perforation.
- Terminal ileum perforation is a rare neonatal surgical emergency.
Observation:
- A brother and sister presented with prenatal ultrasound findings of meconium peritonitis, including severe ascites and peritoneal calcifications.
- The sister had an uncomplicated surgical course for terminal ileum perforation, while her brother developed bronchopulmonary dysplasia postnatally.
- Both siblings exhibited normal growth and development by 30 months and 1 year, respectively.
Findings:
- The siblings presented with the same rare congenital anomaly: terminal ileum perforation leading to meconium peritonitis.
- No underlying connective tissue disorder was identified as the cause.
- The occurrence of this condition in siblings of different sexes suggests a possible autosomal recessive inheritance pattern.
Implications:
- This case highlights the importance of recognizing familial recurrence of congenital intestinal anomalies.
- Further investigation into the genetic basis of ileal perforation and meconium peritonitis may be warranted.
- Understanding the genetic etiology could aid in prenatal diagnosis and counseling for affected families.
Abstract:
We report sibs (a brother and a sister) who presented prenatally with ultrasound findings of meconium peritonitis and postnatally were found to have perforation of the terminal ileum. The sister presented with fetal ultrasound findings of severe ascites and peritoneal calcifications. She had no prenatal intervention and was born at 38 weeks' gestation. Laparatomy revealed perforation of the terminal ileum with meconium peritonitis. Her post-surgical course was uncomplicated and at 30 months of age her growth and development are normal. Her brother presented prenatally with signs of meconium peritonitis including severe ascites and peritoneal calcifications. Prenatal aspiration of the ascitic fluid was performed and unlike his sister he was born prematurely, was operated on at 8 days, and developed bronchopulmonary dysplasia. He is currently 1 year old and has normal growth and development. The aetiology of the ileal perforation is not known. There were no findings suggesting connective tissue disorder and the aetiology of the intestinal perforation is not known. The occurrence of the same rare abnormality in sibs of different sexes points towards an autosomal recessive disorder.