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Familial apple peel jejunal atresia: surgical, genetic, and radiographic aspects
J H Seashore1, F S Collins, R I Markowitz
1Department of Surgery, Yale University School of Medicine, New Haven, Connecticut.
Insights
Apple peel jejunal atresia, a rare congenital condition, often presents with prematurity and short gut syndrome. Early prenatal diagnosis via ultrasound is crucial for timely intervention and improved outcomes in affected infants.
Area of Science:
- Pediatric Surgery
- Medical Genetics
- Neonatal Care
Background:
- Apple peel jejunal atresia is a rare congenital anomaly with significant associated morbidity.
- Historically, this condition has a high incidence of prematurity, malrotation, short gut syndrome, and mortality.
Observation:
- The study reports three new cases of apple peel jejunal atresia, including familial recurrence.
- Radiographic findings suggestive of diagnosis include high small bowel obstruction and malrotated microcolon.
- Previous reports indicate a potential autosomal recessive inheritance pattern, but complex genetic factors are suspected.
Findings:
- Mortality rates for apple peel jejunal atresia have decreased from 63% to 47% since 1970.
- Familial aggregation suggests a genetic component, though not exclusively simple autosomal recessive.
- Prenatal ultrasound can aid in early detection.
Implications:
- Increased risk for subsequent siblings necessitates genetic counseling and surveillance.
- Early diagnosis and intervention through prenatal ultrasound can improve patient management.
- Understanding the complex genetic basis is vital for accurate risk assessment and family planning.
Abstract:
Fifty-seven cases of apple peel jejunal atresia have been reported in the English literature. Patients with this anomaly have a high incidence of prematurity (70%), malrotation (54%), short gut syndrome (74%), multiple atresias (15%), complications (63%), and mortality (54%). Mortality has decreased from 63% to 47% since 1970. We report three new cases of apple peel jejunal atresia, including two from one family. Radiographic evidence of high small bowel obstruction and a malrotated microcolon on preoperative roentgenogram with barium enema should suggest this diagnosis. Five families, including ours, have been reported in which more than one child was affected, and it has been suggested that this disorder is transmitted by an autosomal recessive gene. However, the occurrence of conventional intestinal atresia in other siblings, the association with multiple atresias, and discordance in a set of apparently monozygotic twins indicate that there may be a more complex spectrum of genetic transmission. Subsequent siblings are at increased risk for apple peel atresia or related malformations. Prenatal ultrasound can facilitate early diagnosis and treatment.