DiagnosisEstimated frequencyDistinguishing clinical featuresDiagnostic testingComments
  • Incidence = 0.18 cases per 100,000 person-years (average age at diagnosis = 10.9 years)

  • Gradual dysphagia for solids, then liquids

  • Eating behaviors to overcome contracted lower esophageal sphincter (moving side to side, stretching, eating slowly, walking after eating)

  • Difficulty belching

  • Barium study (classic bird's beak sign)

  • Manometry

  • Treatment: pneumatic dilation, onabotulinumtoxinA (Botox) injection, or laparoscopic myotomy of the lower esophageal sphincter

  • Crohn disease36

  • Incidence = 9.5 to 11.4 per 100,000 person-years

  • Abdominal pain, diarrhea, weight loss; dysphagia or odynophagia if esophagus is involved

  • Extraintestinal manifestations include arthritis, skin disease (erythema nodosum, pyoderma granulosum), eye disease (eposcleritis, uveitis), liver disease

  • Endoscopy with biopsy

  • Male:female ratio = 1.5:1 in prepubescent children

  • Incidence in childhood increases with age

  • Cyclic vomiting syndrome37,38

  • Prevalence estimated at 0.3% in school-aged children

  • Diagnostic criteria:

  • 5 or more attacks in any interval, or 3 or more attacks over 6 months

  • Episodic attacks of intense nausea/vomiting lasting hours to days, occurring at least 1 week apart

  • Vomiting 4 or more times per hour for at least 1 hour during attacks

  • Clinical diagnosis

  • Preventive measures: avoid excitation, fatigue, fasting, and food triggers; regulate menses

  • Pharmacologic prevention options include tricyclic antidepressants or propranolol

  • For acute attacks: consider antiemetics, triptans (off-label) in adolescents

  • Eosinophilic esophagitis39,40

  • Incidence = 0.7 to 10 per 100,000 person-years

  • Atopy in up to 60% of children

  • Endoscopy with biopsy

  • Consider in children with symptoms that do not improve with acid suppression therapy

  • Intestinal atresia41

  • Duodenal atresia: 0.9 per 10,000 live births

  • Jejunoileal atresia: 0.7 per 10,000 live births

  • Abdominal distension, bilious vomiting in first days of life

  • Failure to pass meconium

  • Delayed or protracted symptoms when there is a partial obstruction

  • Barium study (classic double bubble sign)

  • Often observed on prenatal ultrasonography with polyhydramnios

  • Duodenal atresia is associated with Down syndrome

  • Jejunoileal atresia is typically due to vascular compromise

  • Intestinal malrotation42

  • 1 in 500 live births

  • Abdominal pain and bilious vomiting

  • Older infants and children may have chronic colicky abdominal pain, solid food intolerance, failure to thrive, recurrent nonbilious vomiting, gastrointestinal bleeding

  • Barium study

  • Male:female ratio = 2:1

  • 40% present within first week of life; 50% by 1 month of age; 75% by 12 months of age

  • Pyloric stenosis43

  • 2 to 5 per 1,000 live births in developed countries

  • Nonbloody, nonbilious projectile vomiting

  • Often presents at 2 to 4 weeks of age

  • Olive-sized abdominal mass

  • Upper abdominal ultrasonography

  • Male:female ratio = 4:1

  • Requires urgent surgical pylorotomy