Version May 2024
| Disorder | Typical clinical features in neonates and young infants |
| Gastrointestinal obstruction | |
| Pyloric stenosis* | Forceful vomiting, typically nonbilious, and beginning at 3 to 6 weeks of age. |
| Malrotation with volvulus* | Sudden onset of bilious vomiting and an acute abdomen, starting at any age. |
| Intussusception* (may be intermittent) | Sudden onset of intermittent colicky abdominal pain, sometimes with vomiting and maroon-colored hematochezia. Most common between 6 and 36 months of age but may present in neonates. May have Dance sign (retraction of the right iliac fossa). |
| 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. |
| Antral or duodenal web* | Range of presentation, depending on severity of obstruction. In neonates, presents with vomiting (usually bilious) and gastric distension. Older children may present with foreign body retention. |
| Hirschsprung disease* | Abdominal distension, often with failure to pass meconium within the first 48 hours of life and sometimes with bilious emesis. A minority of patients present with Hirschsprung-associated enterocolitis, with an acute presentation including fever, vomiting, diarrhea, and septic shock. Increased risk in infants with Down syndrome. |
| Foreign body | More common in infants 6 to 36 months. Wide range of presentations, including asymptomatic, choking, vomiting, feeding refusal, or delayed symptoms of esophageal perforation. |
| Incarcerated hernia | Irritability, sometimes with abdominal distension and vomiting; firm inguinal mass. |
| Other gastrointestinal causes | |
| Uncomplicated gastroesophageal reflux* | Infant with regurgitation but otherwise healthy ("happy spitter"). |
| Infant rumination syndrome | Chewing and re-swallowing of regurgitated food within minutes of eating or during eating; may be associated with emotional and sensory deprivation. Onset is typically between 3 and 8 months. |
| GERD with esophagitis | Infant with frequent regurgitation and concerning symptoms (poor weight gain, feeding refusal, or marked irritability). These symptoms are nonspecific and are more commonly due to causes other than GERD. |
| Food protein-induced (eg, anaphylaxis, food protein-induced enteropathy [chronic FPIES], or acute FPIES) | Anaphylaxis – Vomiting and diarrhea, beginning within minutes to 2 hours after ingestion of triggering food, often accompanied by urticaria, angioedema, and other anaphylactic symptoms. |
| Acute FPIES – Severe vomiting, diarrhea, and lethargy within 2 hours of ingesting an offending protein. Typically presents in early infancy, approximately 1 to 4 weeks after introduction of cow's milk, soy, or solid foods. | |
| Gastroenteritis | Acute onset in otherwise healthy infant, often with diarrhea. May have contacts with similar symptoms. |
| Peptic ulcer disease, gastritis | Rare in infants but may be associated with use of NSAIDs. |
| Eosinophilic esophagitis | Uncommon in infants. Feeding aversion, weight loss, sometimes with hypoalbuminemia; often associated with atopic disorders such eczema or asthma. |
| Eosinophilic gastroenteritis | Uncommon in infants. Weight loss or poor weight gain, vomiting, and hypalbuminemia. |
| Gastroparesis | Uncommon in infants. May be postviral, due to metabolic disturbance, or associated with disorders with neuromuscular dysfunction or pseudo-obstruction. |
| Central nervous system | |
| Hydrocephalus | Signs of increased intracranial pressure: bulging fontanelle (in younger infants), papilledema, emesis that is triggered by an abrupt change in body position, neurologic deficit. |
| Subdural hematoma | |
| Intracranial hemorrhage | |
| Mass lesion | |
| Infection | |
| Sepsis | Refer to UpToDate content on these disorders for clinical presentation and diagnosis. |
| Meningitis | |
| Urinary tract infection | |
| Pneumonia | |
| Otitis media | |
| Hepatitis | Elevated liver enzymes. Many causes and clinical presentations, ranging from asymptomatic to acute liver failure. |
| Metabolic/endocrinologic disorders | |
| Galactosemia* | Vomiting, jaundice, hepatomegaly, and poor weight gain, typically developing within the first few days after birth (if feeds are with breast milk or any cow's milk-based formula). |
| Hereditary fructose intolerance | Recurrent hypoglycemia and vomiting after feeds with fructose or sucrose (eg, fruits or infant formula containing these sugars). |
| Urea cycle defects* | Frequent vomiting and poor appetite, often developing within a few days after birth. Plasma ammonia elevated for age, sometimes with respiratory alkalosis. |
| Amino and organic acidemias* | Wide range of presentations; may include associated hypoglycemia or liver disease. Many of these disorders are included in newborn screening. Refer to UpToDate content on inborn errors of metabolism. |
| Fatty acid oxidation disorders* | |
| Congenital adrenal hyperplasia with adrenal crisis* | May have atypical genitalia, diarrhea, hypovolemia, hyponatremia, hyperkalemia, hypoglycemia, and hypotension. Often but not always detected by newborn screening. |
| Kidneys | |
| Obstructive uropathy | Hydronephrosis or oligohydramnios on prenatal ultrasound; overdistended bladder, failure to thrive, urosepsis. |
| Kidney function impairment | Edema, reduced urine output, hypertension; elevated creatinine and BUN. |
| Cardiac | |
| Heart failure | Presentation varies but may include poor feeding, respiratory distress, cyanosis, shock, acidosis, and congestive heart failure. For some types of congenital heart disease, presents during the first few weeks of life as the ductus arteriosus closes. |
BUN: blood urea nitrogen; FPIES: food protein-induced enterocolitis syndrome; GERD: gastroesophageal reflux disease; NSAIDs: nonsteroidal antiinflammatory drugs.
* Disorders that typically present in the neonatal period.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
