II. Epidemiology

  1. Incidence: 1 in 500 live births (1 in 6000 live births for midgut rotation)
    1. Half the Incidence of Pyloric Stenosis
  2. Typically diagnosed in infants and children
    1. First month of life presentation in 60-85% of cases
    2. Diagnosis by age 1 year in 90% of cases

III. Pathophysiology

  1. Congenital Anomaly affecting the normal Embryonic rotation of the gut
  2. Foregut, midgut and hindgut develop independently
  3. Midgut rapidly develops at 4 to 6 weeks, Herniating at the Umbilicus, then returning to the Abdomen at 8-10 weeks
    1. Midgut normally rotates 270 degrees counterclockwise around its blood supply
    2. BCL6 gene defects result in altered midgut rotation
      1. Non-rotation (most common), incomplete rotation or reverse rotation may occur
      2. Anomalous fixation of the mesentery may also occur
  4. Duodenojejunal junction with abnormal position
    1. Absent ligament of Treitz
    2. Duodenal C-Loop absent, and duodenum instead malpositioned to the right of spine
    3. Jejunum and cecum are positioned in the right upper quadrant

IV. Signs

  1. Presents as Midgut Volvulus in 75% of cases
    1. Of these, 75% present in the first month (most in first week)
    2. Presents as an infant with acute Bilious Emesis and Abdominal Distention

V. Differential Diagnosis: Midgut Volvulus

VI. Imaging

  1. Malrotation: Upper gastrointestinal series
    1. False Positive and False Negatives in 15% of cases
    2. Lower Test Specificity in older children and adults (compared with infants and young children)
  2. Acute Midgut Volvulus: Abdominal Xray
    1. Often non-specific
    2. Dilated Stomach and proximal duodenum with intervening pylorus (Double Bubble Sign)
      1. Double-Bubble is also seen in Duodenal Atresia (typically diagnosed in newborn nursery)

VII. Risk Factors: Associated Syndromes

  1. Familial Intestinal Malrotation
  2. Marfan Syndrome
  3. Prune Belly Syndrome
  4. Chromosomal abnormalities
    1. Trisomy 13
    2. Trisomy 18
    3. Trisomy 21
  5. Other conditions (e.g. Cat-eye, Cantrell, Cornelia de Lange, Coffin-Siris, Heterotaxy, and Apple-Peel atresia)

VIII. Associated Conditions

  1. Kidney and ureter absence
  2. Biliary atresia
  3. Congenital Diaphragmatic Hernia
  4. Duodenal Atresia or Small Bowel stenosis
  5. Gastroschisis
  6. Hirschprung Disease
  7. Imperforate anus
  8. Intussusception
  9. Meckel Diverticulum
  10. Omphalocele
  11. Pyloric Stenosis

IX. Management

  1. Acute Midgut Volvulus
    1. Emergent Surgical Intervention
    2. Mesenteric Infarction and necrosis starts within first 3 hours of onset

X. Complications

  1. Midgut Volvulus (75%)
    1. Consider in any toxic appearing infant with Bilious Emesis
    2. Differential Diagnosis includes Pyloric Stenosis, Duodenal Atresia
  2. Small Bowel Obstruction
  3. Malabsorption

XII. References

  1. Jones (2022) Crit Dec Emerg Med 36(2): 14-5
  2. Applegate (2006) RadioGraphics 26:1485-500 [PubMed]

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Ontology: Congenital malrotation of intestine (C0221210)

Definition (NCI) A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.
Concepts Congenital Abnormality (T019)
MSH C562456
SnomedCT 29980002, 204756000, 48641006
English Incomplete rotation intestine, Volvulus neonatorum, Volvulus of midgut, VOLVULUS OF MIDGUT, Malrotation of the gut, Malrotation of gut, intestinal malrotation, intestinal malrotation (diagnosis), Gut malrotation, Congenital malrotation of intestine, congenital malrotation, intestine malrotation, midgut volvulus, intestines malrotation, volvulus neonatorum, malrotation intestine, Intestinal Malrotation, Volvulus Of Midgut, Malrotation of bowel, Congenital Malrotation of Intestine, Malrotation of intestine, Incomplete rotation of intestine, Congenital malrotation (morphologic abnormality), Congenital malrotation of intestine (disorder), Congenital malrotation, bowel; malrotation, malrotation; bowel, Congenital malrotation, NOS, Intestinal malrotation
Dutch malrotatie van darmen, darm; malrotatie, malrotatie; darm
French Anomalie de la rotation intestinale
Italian Malrotazione intestinale
Portuguese Má rotação intestinal
Spanish Malrotación intestinal, malrotación congénita del intestino (trastorno), malrotación congénita del intestino, rotación anómala congénita de intestino (trastorno), rotación anómala congénita de intestino, rotación patológica de origen congénito (anomalía morfológica), rotación patológica de origen congénito
Japanese 腸回転異常, チョウカイテンイジョウ
Czech Abnormální rotace sttřev
Hungarian Intestinalis malrotatio
German Malrotation