Hypertrophic pyloric stenosis

Hypertrophic pyloric stenosis is the most common cause of gastric outlet obstruction in infants. The condition manifests with postprandial nonbilious projectile vomiting, and symptom onset is typically between 2 and 6 weeks of age. On examination, an olive-shaped mass may be palpable in the epigastrium. The diagnosis is confirmed with abdominal ultrasound. Rehydration and correction of electrolyte derangements are required before definitive treatment with pyloromyotomy.

• Incidence: 0.5–5:1000 live births (considered to be the most common cause of gastric outlet obstruction in infants) ^[1]
• Sex: ♂ > ♀ (∼ 5:1)
• More common in firstborn children
• The incidence is higher in White populations. ^[2]

Epidemiological data refers to the US, unless otherwise specified.

• Environmental factors
  • Exposure to nicotine during pregnancy ^[2]
  • Bottle feeding ^[3]
• Genetic factors: Patients with affected relatives have an increased risk of hypertrophic pyloric stenosis.
• Macrolide antibiotics: Erythromycin and azithromycin are associated with an increased risk of hypertrophic pyloric stenosis, especially when administered within 2 weeks after birth.

• Onset: typically between 2 and 6 weeks of age (rarely after 12 weeks of age) ^[4][5]
• Symptoms ^[4]
  • Frequent regurgitation that progresses to projectile and nonbilious vomiting after feeding
  • Continued hunger after vomiting
  • Late stage: dehydration, poor weight gain, failure to thrive
• Physical examination ^[4]
  • Enlarged, thickened, nontender pylorus on palpitation (described as olive-like)
  • Visible peristaltic waves in the epigastrium

Hypertrophic pyloric stenosis is suspected based on history and physical examination; imaging (e.g., abdominal ultrasound) is required for confirmation. ^[5]

Ultrasound abdomen ^[4][6]

• Indication: first-line for suspected hypertrophic pyloric stenosis ^[4][6]
• Findings ^[6]
  • Thickened pylorus muscle (> 4 mm)
  • Elongated pyloric channel length (> 18 mm)

Upper GI series ^[6]

• Indications ^[6]
  • Concern for bowel obstruction (e.g., midgut volvulus)
  • May be indicated for patients with suspected pyloric stenosis with nondiagnostic ultrasound
• Findings ^[6]
  • String sign: elongated pylorus with narrow lumen
  • Beak sign: distal tapering of the pylorus lumen
  • Shoulder sign: indentation of the antrum caused by the pylorus

Laboratory studies ^[4][5]

Assess for electrolyte derangements and dehydration with a BMP. The following findings are common in late-stage disease and uncommon in early disease:

• Hypochloremic, hypokalemic metabolic alkalosis
  • Loss of gastric hydrochloric acid due to emesis results in increased bicarbonate and decreased chloride concentrations in the blood.
  • Hypokalemia usually occurs in infants who have been vomiting for many days or even weeks.
• Hyponatremia or hypernatremia

Hypertrophic pyloric stenosis is now usually diagnosed early, and infants generally do not present with significant electrolyte imbalances.

Gastroesophageal reflux in infants ^[8][9]

• Definition: the movement of stomach contents into the esophagus with or without spitting up and regurgitation due to transient lower esophageal sphincter relaxation
• Epidemiology: physiological process in infants; typically occurs shortly after feeding
• Etiology
  • Esophageal sphincter: transient lower relaxation due to frequent, large-volume feedings
  • Esophagus: short length and/or supine position
• Clinical features
  • Spitting up or regurgitation shortly after feeding
  • Normal physical examination and development (normal weight gain, no difficulty feeding)
• Diagnostics: clinical findings
• Management
  • Reassurance of the infant's parents
  • Conservative measures
    • Maintain breastfeeding
    • Avoiding overfeeding
    • Positioning therapy
      • Maintain the infant in an upright position for 20–30 minutes after feeding.
      • Avoid sitting.
    • Using food thickeners
    • Avoid exposure to tobacco smoke. ^[10]
• Prognosis: : The frequency of episodes decreases with age; usually resolves spontaneously by 12–18 months of age.

Gastroesophageal reflux disease (GERD) ^[8]

See “Gastroesophageal reflux disease in infants.”

Cyclical vomiting syndrome ^[7][11]

• Etiology: : unknown, often associated with stress (e.g., psychological stress due to parent divorce, infections, fasting) and a personal or family history of migraine headaches
• Epidemiology: peak incidence 5 years of age ^[11]
• Clinical features
  • Recurrent, self-limited attacks of severe vomiting (bilious or nonbilious) and no evidence of anatomical anomalies or underlying conditions
  • Attacks may be accompanied by severe nausea, headaches, photophobia, abdominal pain.
• Diagnostic criteria (Rome IV criteria for cyclical vomiting syndrome): All four criteria must be fulfilled for the diagnosis of cyclical vomiting syndrome to be made. ^[7]
  • Each episode lasting < 1 week
  • ≥ 3 episodes in the past year and ≥ 2 episodes in the past six months, occurring ≥ 1 week apart
  • Asymptomatic intervals between episodes (mild symptoms may be present)
  • Onset ≥ 6 months prior and symptoms have to present for the past 3 months
• Treatment ^[11]
  • Identify and avoid triggers (e.g., foods such as cheese or chocolate, stress).
  • Prophylactic treatment
    • Cyproheptadine in patients < 5 years of age
    • Amitriptyline in patients > 5 years of age
  • Supportive care (e.g., IV fluids, antiemetics)

Sandifer syndrome ^[12]

• Definition: a paroxysmal movement disorder characterized by torticollis and arching of the spine that occurs in association with GERD and hiatal hernia
• Epidemiology
  • Unknown incidence and prevalence
  • Associated with GERD in children
• Clinical features
  • Torticollis and arching of the spine (opisthotonic posturing) lasting 1–3 minutes and often associated with ingestion of food
  • Vomiting, poor feeding, epigastric discomfort
• Diagnosis: based on clinical findings (association with GERD and a normal neurological examination)
• Treatment: treatment of GERD

The differential diagnoses listed here are not exhaustive.

Initial management ^[4][5]

• Establish NPO status.
• Initiate IV fluid resuscitation and/or IV maintenance fluids.
• Replete electrolytes (e.g., potassium repletion) as indicated.
• Consult surgery for pyloromyotomy.
• Admit for surgical management.

Pyloromyotomy ^[4][5]

• Definition: : a surgical procedure in which a longitudinal incision is made through the muscular layers of the hypertrophic pylorus to widen its lumen
• Indications: hypertrophic pyloric stenosis
• Contraindications: inadequate fluid resuscitation and electrolyte repletion
• Techniques
  • Laparoscopic pyloromyotomy (preferred)
  • Open Ramstedt pyloromyotomy
• Complications
  • Gastrointestinal perforation
  • Incomplete pyloromyotomy

Infants with uncorrected metabolic alkalosis are at increased risk of postoperative apnea and prolonged intubation. ^[5]

• Very good prognosis
• Mortality rate: < 1% ^[13]