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[Multiple intestinal atresia with involvement of the entire gastrointestinal tract]
B Solsona-Narbón1, J B Elías Pollina, J A Esteban Ibarz
1Hospital Infantil Miguel Servet, Zaragoza.
Insights
Familial multiple intestinal atresia (MIA) presents a significant surgical challenge. Early diagnosis and genetic counseling are crucial for affected infants with this rare, hereditary condition.
Area of Science:
- Pediatric Surgery
- Medical Genetics
- Neonatal Care
Background:
- Multiple intestinal atresia (MIA) is a rare congenital anomaly.
- Familial occurrence suggests a potential hereditary component.
- Early diagnosis and intervention are critical for patient outcomes.
Observation:
- Two consecutive siblings presented with multiple intestinal atresia.
- Prenatal ultrasound at 28 weeks identified MIA in the second sibling.
- Postnatal abdominal X-rays confirmed intestinal obstruction and suggested MIA.
Findings:
- Surgical intervention was performed within 24 hours of life for both infants.
- Macroscopic and histological findings confirmed MIA, distinct from non-hereditary forms.
- The familial MIA cases exhibited a pattern potentially indicative of hereditary transmission.
Implications:
- Familial MIA necessitates thorough genetic counseling due to its hereditary nature.
- Prompt surgical management is vital for survival.
- Intestinal transplantation may be a future consideration for severe, refractory cases.
Abstract:
Two new cases with familiar multiple intestinal atresia (MIA) are reported. Two consecutive siblings with MIA were referred to our pediatric surgical unit over the last year. The second child was diagnosed by means of a pre-delivery conducted ecography in the 28 week of pregnancy. In both cases an abdominal x-ray performed just after the delivery, proved the diagnosis of the first obstruction and suggested the MIA diagnosis. The treatment was surgical, fast; the child was operated on in his twenty four hours of life. The macroscopic malformations as well as the histological findings confirmed the MIA diagnosis, that is different from the classical pattern of MIA, called non hereditary. Therefore we can conclude that the familiar MIA with a possible hereditary pattern is grave enough to be recommended the need of an adequate genetic advice and in the future an intestinal transplant.