II. Epidemiology
-
Incidence: 1 in 500 live births (1 in 6000 live births for midgut rotation)
- Half the Incidence of Pyloric Stenosis
- Typically diagnosed in infants and children
- First month of life presentation in 60-85% of cases
- Diagnosis by age 1 year in 90% of cases
III. Pathophysiology
- Congenital Anomaly affecting the normal Embryonic rotation of the gut
- Foregut, midgut and hindgut develop independently
- Midgut rapidly develops at 4 to 6 weeks, Herniating at the Umbilicus, then returning to the Abdomen at 8-10 weeks
- Midgut normally rotates 270 degrees counterclockwise around its blood supply
- BCL6 gene defects result in altered midgut rotation
- Non-rotation (most common), incomplete rotation or reverse rotation may occur
- Anomalous fixation of the mesentery may also occur
- Duodenojejunal junction with abnormal position
- Absent ligament of Treitz
- Duodenal C-Loop absent, and duodenum instead malpositioned to the right of spine
- Jejunum and cecum are positioned in the right upper quadrant
IV. Signs
- Presents as Midgut Volvulus in 75% of cases
- Of these, 75% present in the first month (most in first week)
- Presents as an infant with acute Bilious Emesis and Abdominal Distention
V. Differential Diagnosis: Midgut Volvulus
VI. Imaging
- Malrotation: Upper gastrointestinal series
- False Positive and False Negatives in 15% of cases
- Lower Test Specificity in older children and adults (compared with infants and young children)
- Acute Midgut Volvulus: Abdominal Xray
- Often non-specific
- Dilated Stomach and proximal duodenum with intervening pylorus (Double Bubble Sign)
- Double-Bubble is also seen in Duodenal Atresia (typically diagnosed in newborn nursery)
VII. Risk Factors: Associated Syndromes
- Familial Intestinal Malrotation
- Marfan Syndrome
- Prune Belly Syndrome
- Chromosomal abnormalities
- Trisomy 13
- Trisomy 18
- Trisomy 21
- Other conditions (e.g. Cat-eye, Cantrell, Cornelia de Lange, Coffin-Siris, Heterotaxy, and Apple-Peel atresia)
VIII. Associated Conditions
- Kidney and ureter absence
- Biliary atresia
- Congenital Diaphragmatic Hernia
- Duodenal Atresia or Small Bowel stenosis
- Gastroschisis
- Hirschprung Disease
- Imperforate anus
- Intussusception
- Meckel Diverticulum
- Omphalocele
- Pyloric Stenosis
IX. Management
- Acute Midgut Volvulus
- Emergent Surgical Intervention
- Mesenteric Infarction and necrosis starts within first 3 hours of onset
X. Complications
-
Midgut Volvulus (75%)
- Consider in any toxic appearing infant with Bilious Emesis
- Differential Diagnosis includes Pyloric Stenosis, Duodenal Atresia
- Small Bowel Obstruction
- Malabsorption
XI. Resources
XII. References
- Jones (2022) Crit Dec Emerg Med 36(2): 14-5
- Applegate (2006) RadioGraphics 26:1485-500 [PubMed]