Epidemiology and Etiology
Epidemiology
- Overall incidence: 2.5–10 per 100,000 live births
- Duodenal atresia:
- Incidence: 1 in 10,000 live births
- 50% of infants with duodenal atresia are premature.
- Common concomitant anomalies:
- Down’s syndrome (25%–40%)
- Congenital heart disease (30%): associated with increased mortality
- Annular pancreas Pancreas The pancreas lies mostly posterior to the stomach and extends across the posterior abdominal wall from the duodenum on the right to the spleen on the left. This organ has both exocrine and endocrine tissue. Pancreas (30%): associated with late pancreatitis, gastroesophageal reflux disease Gastroesophageal Reflux Disease Gastroesophageal reflux disease (GERD) occurs when the stomach acid frequently flows back into the esophagus. This backwash (acid reflux) can irritate the lining of the esophagus, causing symptoms such as retrosternal burning pain (heartburn). Gastroesophageal Reflux Disease, peptic ulcer disease Peptic ulcer disease Peptic ulcer disease (PUD) refers to the full-thickness ulcerations of duodenal or gastric mucosa. The ulcerations form when exposure to acid and digestive enzymes overcomes mucosal defense mechanisms. The most common etiologies include Helicobacter pylori (H. pylori) infection and prolonged use of non-steroidal anti-inflammatory drugs (NSAIDs). Peptic Ulcer Disease, and gastric cancer Gastric cancer Gastric cancer is the 3rd-most common cause of cancer-related deaths worldwide. The majority of cases are from adenocarcinoma. The modifiable risk factors include Helicobacter pylori infection, smoking, and nitrate-rich diets. Gastric Cancer
- Malrotation (20%–30%)
- Renal anomalies (5%–15%)
- Esophageal atresia Esophageal atresia Esophageal atresia is a congenital anomaly in which the upper esophagus is separated from the lower esophagus and ends in a blind pouch. The condition may be isolated or associated with tracheoesophageal fistula, which is an abnormal connection between the trachea and esophagus. Esophageal Atresia and Tracheoesophageal Fistula (5%–10%)
- Skeletal malformations (5%)
- Anorectal anomalies (5%)
- Annular
pancreas
Pancreas
The pancreas lies mostly posterior to the stomach and extends across the posterior abdominal wall from the duodenum on the right to the spleen on the left. This organ has both exocrine and endocrine tissue.
Pancreas:
- Incidence: 5–15 per 100,000 adults
- Common concomitant abnormalities:
- Maternal polyhydramnios Polyhydramnios Polyhydramnios is a pathological excess of amniotic fluid. Common causes of polyhydramnios include fetal anomalies, gestational diabetes, multiple gestations, and congenital infections. Patients are often asymptomatic but may present with dyspnea, extremity swelling, or abdominal distention. Polyhydramnios
- Meckel’s diverticulum
- Down’s syndrome
- Imperforate anus
- Duodenal atresia
- Esophageal atresia Esophageal atresia Esophageal atresia is a congenital anomaly in which the upper esophagus is separated from the lower esophagus and ends in a blind pouch. The condition may be isolated or associated with tracheoesophageal fistula, which is an abnormal connection between the trachea and esophagus. Esophageal Atresia and Tracheoesophageal Fistula
- Duplication cysts:
- Incidence: 1 in 45,000 births
- Duodenal duplication cysts make up only 5% of reported cases.
- Congenital bands: Incidence of duodenal obstruction due to Ladd’s bands is not reported.
Etiology
- Intrinsic (most common):
- Duodenal atresia (most common): failed recanalization of the duodenum during embryonal development
- Duodenal stenosis: incomplete recanalization of the duodenum during embryonal development
- Extrinsic:
- Annular pancreas Pancreas The pancreas lies mostly posterior to the stomach and extends across the posterior abdominal wall from the duodenum on the right to the spleen on the left. This organ has both exocrine and endocrine tissue. Pancreas: band of pancreatic tissue surrounding the duodenum arising from incorrect rotation of the pancreatic bud during embryonal development
- Congenital bands (Ladd’s bands): fibrous bands of peritoneum Peritoneum The peritoneum is a serous membrane lining the abdominopelvic cavity. This lining is formed by connective tissue and originates from the mesoderm. The membrane lines both the abdominal walls (as parietal peritoneum) and all of the visceral organs (as visceral peritoneum). Peritoneum and Retroperitoneum that persist due to malrotation of the small intestines
- Duplication cyst: cystic malformations of the small intestines that can deform the lumen of the duodenum
- Intrinsic and extrinsic causes may occur concomitantly.
Annular pancreas Pancreas The pancreas lies mostly posterior to the stomach and extends across the posterior abdominal wall from the duodenum on the right to the spleen on the left. This organ has both exocrine and endocrine tissue. Pancreas with a band of pancreatic tissue surrounding the duodenum leading to obstruction caused by a malrotation of the pancreatic bud during development
Image by Lecturio.
Anatomical comparison between a healthy small intestine Small intestine The small intestine is the longest part of the GI tract, extending from the pyloric orifice of the stomach to the ileocecal junction. The small intestine is the major organ responsible for chemical digestion and absorption of nutrients. It is divided into 3 segments: the duodenum, the jejunum, and the ileum. Small Intestine and duodenal atresia.
Image by Lecturio.
Duodenal atresia is caused by the failure of the duodenum to recanalize during embryonal development.
Ladd’s bands in a patient with malrotation.
Image by Lecturio.
The bands of fibrous peritoneal tissue can put pressure on and obstruct the duodenum.
Clinical Presentation
Signs and symptoms of intestinal obstruction:
- Polyhydramnios and bile-stained amniotic fluid may be present at birth.
- Bilious vomiting without abdominal distension on 1st day of life (hallmark)
- Delayed symptoms or prolonged vomiting and failure to thrive Failure to Thrive Failure to thrive (FTT), or faltering growth, describes suboptimal weight gain and growth in children. The majority of cases are due to inadequate caloric intake; however, genetic, infectious, and oncological etiologies are also common. Failure to Thrive based on severity of occlusion
- Abdominal peristaltic waves may be present, especially early in the course.
Associated abnormalities:
- Biliary atresia
- Agenesis of gallbladder Gallbladder The gallbladder is a pear-shaped sac, located directly beneath the liver, that sits on top of the superior part of the duodenum. The primary functions of the gallbladder include concentrating and storing up to 50 mL of bile. Gallbladder and Biliary Tract
- Renal, limb, and vertebral malformations
Diagnosis and Management
Diagnosis
History
- Prenatal:
- Duodenal obstruction in other pregnancy Pregnancy Pregnancy is the time period between fertilization of an oocyte and delivery of a fetus approximately 9 months later. The 1st sign of pregnancy is typically a missed menstrual period, after which, pregnancy should be confirmed clinically based on a positive β-HCG test (typically a qualitative urine test) and pelvic ultrasound. Pregnancy: Diagnosis, Maternal Physiology, and Routine Care
- Bowel dilatation or polyhydramnios Polyhydramnios Polyhydramnios is a pathological excess of amniotic fluid. Common causes of polyhydramnios include fetal anomalies, gestational diabetes, multiple gestations, and congenital infections. Patients are often asymptomatic but may present with dyspnea, extremity swelling, or abdominal distention. Polyhydramnios on prenatal screening
- Maternal diabetes mellitus Diabetes mellitus Diabetes mellitus (DM) is a metabolic disease characterized by hyperglycemia and dysfunction of the regulation of glucose metabolism by insulin. Type 1 DM is diagnosed mostly in children and young adults as the result of autoimmune destruction of β cells in the pancreas and the resulting lack of insulin. Type 2 DM has a significant association with obesity and is characterized by insulin resistance. Diabetes Mellitus
- Perinatal:
- Gestational age
- Hours from birth to onset of vomiting
- Timing of meconium passing
- Family history:
- Siblings with intestinal malformations
- Cystic fibrosis Cystic fibrosis Cystic fibrosis is an autosomal recessive disorder caused by mutations in the gene CFTR. The mutations lead to dysfunction of chloride channels, which results in hyperviscous mucus and the accumulation of secretions. Common presentations include chronic respiratory infections, failure to thrive, and pancreatic insufficiency. Cystic Fibrosis
Physical exam
- General:
- Signs pointing to dehydration Dehydration Volume status is a balance between water and solutes, the majority of which is Na. Volume depletion refers to a loss of both water and Na, whereas dehydration refers only to a loss of water. Dehydration is primarily caused by decreased water intake and presents with increased thirst and can progress to altered mental status and low blood pressure if severe. Volume Depletion and Dehydration
- Dysmorphic features suggestive of associated abnormalities seen with atresia (e.g., Down’s syndrome)
- Skin Skin The skin, also referred to as the integumentary system, is the largest organ of the body. The skin is primarily composed of the epidermis (outer layer) and dermis (deep layer). The epidermis is primarily composed of keratinocytes that undergo rapid turnover, while the dermis contains dense layers of connective tissue. Structure and Function of the Skin: jaundice Jaundice Jaundice is the abnormal yellowing of the skin and/or sclera caused by the accumulation of bilirubin. Hyperbilirubinemia is caused by either an increase in bilirubin production or a decrease in the hepatic uptake, conjugation, or excretion of bilirubin. Jaundice
- Abdomen: Distension suggests that obstruction is not duodenal but more distal.
- Rectal exam: anal atresia associated with duodenal atresia
Imaging
- Prenatal ultrasound:
- Shows “double bubble” sign (air-filled stomach Stomach The stomach is a muscular sac in the upper left portion of the abdomen that plays a critical role in digestion. The stomach develops from the foregut and connects the esophagus with the duodenum. Structurally, the stomach is C-shaped and forms a greater and lesser curvature and is divided grossly into regions: the cardia, fundus, body, and pylorus. Stomach and duodenum)
- May reveal polyhydramnios Polyhydramnios Polyhydramnios is a pathological excess of amniotic fluid. Common causes of polyhydramnios include fetal anomalies, gestational diabetes, multiple gestations, and congenital infections. Patients are often asymptomatic but may present with dyspnea, extremity swelling, or abdominal distention. Polyhydramnios
- Radiography:
- Double bubble sign confirms diagnosis of duodenal obstruction.
- Contrast studies may occasionally be needed to rule out malrotation and volvulus Volvulus A volvulus is the twisting or axial rotation of a portion of the bowel around its mesentery. The most common site of volvulus in adults is the colon; most frequently the sigmoid volvulus. Patients typically present with symptoms of bowel obstruction such as abdominal pain, distension, vomiting, and constipation/obstipation. Volvulus.
- Computed tomography (CT) or magnetic resonance imaging (MRI) may be used for better visualization.
Prenatal ultrasound showing fetal double bubble sign with polyhydramnios Polyhydramnios Polyhydramnios is a pathological excess of amniotic fluid. Common causes of polyhydramnios include fetal anomalies, gestational diabetes, multiple gestations, and congenital infections. Patients are often asymptomatic but may present with dyspnea, extremity swelling, or abdominal distention. Polyhydramnios
Image: “Congenital Duodenal Obstruction in Neonates” by Journal of Neonatal Surgery. License: CC BY 3.0
Double bubble sign in a patient with duodenal atresia
Image: “Alimentary Tract Atresias associated with Anorectal Malformations” by Journal of Neonatal Surgery. License: CC BY 3.0
Management
Medical therapy
- Nasogastric decompression
- Fluid resuscitation
Surgical management
- Duodenal atresia and/or annular pancreas Pancreas The pancreas lies mostly posterior to the stomach and extends across the posterior abdominal wall from the duodenum on the right to the spleen on the left. This organ has both exocrine and endocrine tissue. Pancreas are corrected with duodenoduodenostomy.
- Long-term prognosis is excellent.
References
- Kliegman RB, ST Geme JW, Blum MJ, Shah SS, Tasker RC, Wilson KM, Behrman RE. (2016). In Nelson’s Textbook of Pediatrics. (20th ed.) Elsevier.
- Ravitch MM. (1975). The pancreas in infants and children. Surg Clin North Am, 55(2):377–85. https://doi.org/10.1016/s0039-6109(16)40587-6
- Sangüesa Nebot C, Llorens Salvador R, Carazo Palacios E, Picó Aliaga S, Ibañez Pradas V. (2018). Enteric duplication cysts in children: varied presentations, varied imaging findings. Insights Imaging, 9(6):1097–1106. https://doi.org/10.1007/s13244-018-0660-z
- Sadler TW, Langman J. (2012). Langman’s medical embryology (12th ed.) Wolters Kluwer Health/Lippincott Williams & Wilkins.
