Linking physical examination and diagnosis in the ill-appearing infant

Physical finding	Potential diagnosis
Fever	Bacterial or viral infection with sepsis Child abuse with intracranial hemorrhage Bowel perforation caused by a surgical condition*
Hypothermia (T <36.5°C [97.7°F])	Bacterial or viral infection with sepsis Hypoglycemia (poor intake, infection, and/or inborn error of metabolism) Environmental exposure
Tachycardia with heart rate >220 beats per minute and no beat to beat variability	Supraventricular tachycardia
Bulging fontanel and/or increased head circumference (>85^th percentile for age)	Meningitis (febrile patients) Child abuse with intracranial hemorrhage and/or hydrocephalus (afebrile or febrile patients)
Rales and/or wheezing	Lung disease (pneumonia or bronchiolitis) Congenital heart disease with heart failure
Blood pressure gradient (UE > LE) Brachial pulse > femoral pulses Cyanosis not improved with 100% oxygen Single second heart sound Pathologic heart murmur^¶ Gallop rhythm	Congenital heart disease
Abdominal distension or tenderness	Bowel obstruction from a surgical condition*
Hepatomegaly	Congenital heart disease (right-sided heart failure) Inborn errors of metabolism Hepatitis (eg, herpes simplex virus infection)
Irreducible scrotal or labial mass	Incarcerated hernia
Ambiguous genitalia or clitoromegaly	Congenital adrenal hyperplasia
Explosive release of gas or stool on rectal examination	Congenital aganglionic megacolon (Hirschsprung disease)
Immobile extremity with pain on passive motion	Fracture due to child abuse Osteomyelitis (febrile patients)
Swollen, red, and warm joint	Septic arthritis
Seizures or status epilepticus	Hypoglycemia and/or inborn error of metabolism Hyponatremia/hypernatremia Child abuse with intracranial hemorrhage Meningitis or encephalitis Drug exposure
Jitteriness with increase myoclonus during loud noises	Hypocalcemia
Weak cry, hypotonia, hyporeflexia, poor or absent gag reflex, ptosis, and weak suck in a previously well child	Infant botulism
Jaundice (unconjugated hyperbilirubinemia) with opisthotonus and high-pitched cry	Acute bilirubin encephalopathy (kernicterus)
Jaundice (conjugated hyperbilirubinemia)	Sepsis^Δ
Central cyanosis despite 100% supplemental oxygen	Congenital heart disease (abnormal cardiovascular examination as above) Methemoglobinemia (normal cardiovascular examination)
Bruising	Child abuse
Mucocutaneous vesicles	Herpes simplex virus infection

T: temperature; UE: upper extremity; LE: lower extremity.
* Surgical conditions in ill-appearing young infants that may cause bowel perforation included intestinal malrotation with volvulus, congenital aganglionic megacolon (Hirschsprung disease), incarcerated hernia, necrotizing enterocolitis, and neonatal appendicitis. Refer to UpToDate topics on approach to the ill-appearing infant (younger than 90 days of age).
¶ The absence of a murmur does not exclude the diagnosis of congenital heart disease.
Δ Jaundice with urosepsis is classically associated with galactosemia.

Graphic 63744 Version 4.0

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Linking physical examination and diagnosis in the ill-appearing infant