Q41.2 Congenital absence, atresia and stenosis of ileum

Name of the Condition

• Congenital absence, atresia and stenosis of ileum

Summary

Congenital absence, atresia, and stenosis of the ileum are rare congenital malformations affecting the development of the ileum, the final segment of the small intestine. These conditions involve partial or complete obstruction due to abnormal formation, such as missing segments (atresia), narrowed passages (stenosis), or complete absence (agenesis) of portions of the ileum. They typically present shortly after birth with signs of intestinal obstruction.

Causes

These malformations arise during fetal development, often due to disruptions in the normal recanalization process of the intestinal tract. While specific causes are not always identifiable, genetic factors, vascular abnormalities (e.g., mesenteric ischemia), or environmental influences during critical periods of embryonic growth may contribute to their occurrence.

Risk Factors

• Family history of congenital intestinal malformations.
• Associated genetic syndromes or chromosomal abnormalities.
• Maternal exposure to teratogens during pregnancy.
• Prematurity or low birth weight.

Symptoms

• Abdominal distension.
• Bilious (greenish) vomiting shortly after birth.
• Failure to pass meconium or delayed passage.
• Signs of intestinal obstruction, such as feeding intolerance.

Diagnosis

Diagnosis is typically made through clinical evaluation of newborn symptoms, followed by imaging studies such as abdominal X-rays or contrast enemas to identify intestinal obstruction patterns. Surgical exploration may be required for definitive diagnosis and to assess the extent of the malformation.

Treatment Options

Treatment generally involves surgical intervention to correct the obstruction, such as resection of the affected segment and anastomosis of the remaining healthy intestine. Postoperative care focuses on nutritional support and monitoring for complications.

Prognosis and Follow-Up

Prognosis depends on the severity of the malformation, the presence of associated anomalies, and the timing of intervention. Long-term follow-up may be necessary to monitor growth, nutritional status, and potential complications like short bowel syndrome.

Complications

• Short bowel syndrome due to extensive intestinal resection.
• Malabsorption and nutritional deficiencies.
• Adhesive bowel obstructions or strictures.
• Increased risk of intestinal infections.

Lifestyle & Prevention

Prenatal care, including folic acid supplementation and avoiding teratogenic exposures, may help reduce the risk of congenital malformations. Post-surgery, a balanced diet and regular monitoring support recovery and long-term health.

When to Seek Professional Help

Seek immediate medical attention if a newborn exhibits bilious vomiting, abdominal distension, or fails to pass meconium within the first 24-48 hours of life.

Tips for Medical Coders

Document the specific location (ileum) and type of malformation (absence, atresia, or stenosis) to ensure accurate coding. Include details of associated anomalies or surgical interventions, as these may impact code assignment. Verify documentation aligns with clinical findings to support the diagnosis.