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Ileal dysgenesis in infants and children
Insights
Ileal dysgenesis is a rare congenital condition causing segmental ileal dilation. This study highlights its varied presentations and suggests an intrinsic developmental origin.
Area of Science:
- Gastroenterology
- Pediatric Surgery
- Developmental Biology
Background:
- Ileal dysgenesis is a rare congenital anomaly characterized by segmental dilatation of the terminal ileum.
- Previous literature has described similar cases under terms like "giant Meckel's diverticulum" or "segmental ileal dilatation."
Observation:
- Seven patients presented with ileal dysgenesis from birth to 15 years.
- Manifestations included omphalocele-associated dilatation, enteroliths, and a syndrome of anemia, pallor, and fatigue in older children.
- Literature review identified 11 additional patients with symptoms like intestinal obstruction and abdominal pain.
Findings:
- All 18 reviewed patients exhibited segmental saccular or tubular dilatation of the terminal ileum, ranging from 8 to 25 cm.
- No lumenal stenosis was identified as the cause of dilatation.
- Meckel's diverticula were incidentally found in two patients.
Implications:
- Ileal dysgenesis appears to be an intrinsic developmental abnormality occurring at the terminal ileum's junction with the yolk stalk.
- Understanding this entity is crucial for accurate diagnosis and surgical management in pediatric patients.
- Further research into the specific developmental pathways may elucidate the etiology of this condition.
Abstract:
Ileal dysgenesis describes the segmental dilatation of the terminal ileum treated in seven patients presenting from birth to 15 yr. Manifestations included saccular segmental ileal dilatation adherent to the peritoneal surface of an omphalocele sac in two neonates, a radiographically delineated enterolith in a child studied for an unrelated disorder, and a syndrome including pallor, fatigue, and anemia in four children aged 10 to 15 yr. Literature review uncovered 11 similar patients to 38 yr of age. Other symptoms in that group included intestinal obstruction and recurrent abdominal pain. At laparotomy all patients were found to have segmental saccular or tubular dilatation of the terminal ileum. The dilated segments varied in length from 8 to 25 cm. Meckel's diverticula were present in two patients. Segmental resection and anastomosis was performed in all patients. No lumenal stenosis was present in any specimen to account for the dilatation. Previous reports have referred to this abnormality as "giant Meckel's diverticulum" or "segmental ileal dilatation." Evaluation of these 18 patients suggests that this entity is an intrinsic abnormality of ileal development at the morphologically active site of juncture with the yolk stalk.