TOPIC 14: Emesis (Infants) – Know the differential diagnosis and evaluation of emesis in an infant

OFFICIAL ABP TOPIC:

Emesis (Infants) – Know the differential diagnosis and evaluation of emesis in an infant

BACKGROUND

Vomiting is a common presenting symptom in infants that has a wide differential diagnosis spanning gastrointestinal, neurologic, metabolic, infectious, and other etiologies. While often benign and self-limited, emesis in infants can also be a sign of a serious underlying disorder.

DIFFERENTIAL DIAGNOSIS OF EMESIS IN INFANTS

TABLE 1

DISORDER

TYPICAL CLINICAL FEATURES

Gastrointestinal Obstruction

Pyloric stenosis

Forceful vomiting, typically nonbilious, beginning at 3-6 weeks of age, hypochloremic metabolic alkalosis, palpable “olive”

Malrotation with volvulus

Sudden onset of bilious vomiting and acute abdomen, starting at any age

Intestinal atresia, stenosis, or duplication

Bilious vomiting (if lesion distal to ampulla of Vater) and gastric or abdominal distension, usually presenting within hours or days of birth

Intussusception

Sudden-onset intermittent colicky pain, currant jelly stools

Hirschsprung disease

Abdominal distension, failure to pass meconium within 48 hours, sometimes with bilious emesis; can present with enterocolitis (fever, vomiting, diarrhea, septic shock)

Other Gastrointestinal Causes

Uncomplicated GER

Infant with regurgitation but otherwise healthy (happy spitter)

Overfeeding

Frequent small-volume emesis, normal growth and development

Infant rumination syndrome

Re-swallowing of regurgitated food within minutes of eating; onset typically between 3-8 months old

Viral gastroenteritis

Sudden onset, usually with diarrhea and ill contacts

Necrotizing enterocolitis (premature infants)

Bilious emesis, bloody stools, abdominal distension, wall erythema/discoloration, acute decompensation

GERD with esophagitis

Frequent regurgitation with concerning symptoms (irritability, feeding refusal, poor weight gain)

Food protein-induced enterocolitis syndrome (FPIES)

Severe vomiting, diarrhea, lethargy in acute FPIES; chronic FPIES with intermittent vomiting, diarrhea, poor growth

Eosinophilic esophagitis or gastroenteritis

Feeding aversion, weight loss, hypoalbuminemia; can present with postprandial vomiting mimicking pyloric stenosis

TABLE 1 CONTINUED…

DISORDER

TYPICAL CLINICAL FEATURES

Neurologic

Hydrocephalus

Persistent forceful emesis, bulging fontanelle, altered mental status, focal neurologic deficits, emesis with position changes

Subdural hematoma

Unexplained emesis, altered mental status, seizures in infant with history of possible trauma

Metabolic/Endocrine

Galactosemia

Vomiting, jaundice, hepatomegaly, poor weight gain within days of starting breast milk or lactose-containing formula

Hereditary fructose intolerance

Vomiting, hypoglycemia after feeds with fructose/sucrose (fruits, juices, medications)

Urea cycle defects, organic acidemias

Recurrent vomiting, lethargy, poor feeding, ± hyperammonemia, metabolic acidosis

Congenital adrenal hyperplasia

Vomiting, dehydration, hypotension, hyponatremia, hyperkalemia; may have atypical genitalia (females)

EVALUATION OF EMESIS IN INFANTS

HISTORY

  • Emesis: Onset, frequency, amount, forcefulness, content (bilious, bloody, undigested food)
  • Associated symptoms: Fever, diarrhea, bloody stools, abdominal pain/distension, lethargy
  • Feeding: Formula or breast milk, volume, recent diet changes, timing of emesis relative to feeds
  • Urine output and wet diapers
  • Medications and recent immunizations
  • Ill contacts: Gastroenteritis, HSV
  • Growth and development
  • Past medical history
  • Family history: Gastrointestinal disorders, metabolic diseases, cystic fibrosis

PHYSICAL EXAM

  • Vital signs
  • Growth parameters (weight, length, head circumference): Rapid head growth may be a sign of hydrocephalus
  • Hydration status: Tears, mucous membranes, skin turgor, sunken eyes/fontanelle
  • General appearance: Lethargy, irritability, consolability
  • Head: Fontanelle fullness, signs of trauma
  • Abdomen: Distension, tenderness, visible peristalsis, palpable mass, bowel sounds
  • Genitourinary: Atypical genitalia (congenital adrenal hyperplasia)
  • Anus: Patency, explosive stools with rectal exam (blast sign suggestive of Hirschsprung’s disease)
  • Neurologic: Mental status, tone, reflexes
  • Skin: Jaundice, erythema/discoloration, petechiae/purpura
  • Unusual odor may suggest a metabolic disorder (e.g., musty odor in phenylketonuria)

RED FLAGS FOR SERIOUS CAUSES OF EMESIS IN INFANTS

  • Acute bilious emesis indicates a surgical emergency (e.g., malrotation with midgut volvulus, intestinal atresia or stenosis, necrotizing enterocolitis in premature infants, incarcerated hernia).
  • Hematemesis: Differential includes swallowed maternal blood during birth (benign), esophagitis, Mallory-Weiss tear, coagulopathy (e.g., Vitamin K deficiency bleeding), gastritis/stress ulcers.
  • Abdominal distension, tenderness, or mass.
  • Altered mental status, irritability, lethargy.
  • Jaundice in newborns >2 weeks old.
  • Failure to thrive.

DIAGNOSTIC TESTING

  • Lab tests: CBC, electrolytes, glucose, liver enzymes, urinalysis.
  • Abdominal x-ray: If obstruction suspected, may show dilated loops of bowel, air-fluid levels.
  • Abdominal ultrasound: Malrotation, hypertrophic pyloric stenosis, intussusception, masses.
  • Upper GI contrast study: Malrotation, obstruction, pyloric stenosis.
  • Metabolic screening: For persistent or unusual symptoms: ammonia, lactate, pyruvate, organic/amino acids, acylcarnitine.
  • Brain MRI: For hydrocephalus.
  • Endoscopy +/- biopsy: For suspected eosinophilic esophagitis or gastroenteritis.
  • Specialized testing: Based on differential (e.g., sweat chloride for cystic fibrosis).

PHYSICAL EXAM FINDINGS AND DIAGNOSTIC CONSIDERATIONS

FINDING

DIAGNOSTIC CONSIDERATIONS

Nonspecific

Tachycardia

Dehydration, sepsis, metabolic acidosis, bowel ischemia

Jaundice

Conjugated – Biliary atresia, metabolic liver disease

Unconjugated – Physiologic, breast milk, hemolysis, Gilbert syndrome

Altered mental status

Sepsis, meningitis, intracranial hemorrhage/mass, inborn error of metabolism, ingestion

Poor growth/malnutrition

Malabsorption, FPIES, eosinophilic disorders, metabolic disorders, pyloric stenosis

Abdominal

Distension

Bowel obstruction, ileus, Hirschsprung disease, necrotizing enterocolitis

Tenderness/peritoneal signs

Intussusception, peritonitis, obstruction, volvulus

Visible bowel loops

Obstruction, Hirschsprung disease

Abdominal mass

Intussusception, tumor (neuroblastoma, Wilms), pyloric stenosis (“olive”)

Jaundice + hepatomegaly

Biliary atresia, idiopathic neonatal hepatitis, metabolic liver disease

Other

Bulging fontanelle

Increased intracranial pressure, hydrocephalus, meningitis

Inguinal mass/fullness

Incarcerated inguinal hernia

Rectal bleeding

Milk protein allergy, FPIES, Meckel’s diverticulum, intussusception

 

REFERENCES

https://www.uptodate.com/contents/approach-to-the-infant-or-child-with-nausea-and-vomiting 

https://publications.aap.org/pediatricsinreview/article/39/7/342/35176/Vomiting-in-Children