You receive a report that an infant “doesn't look good” or looks “mottled.” Other descriptions may include a “washed-out appearance” or “poor perfusion.”
What is the age of the infant? Hypoplastic left heart syndrome may cause poor perfusion and a mottled appearance. It may be seen at days 1–21 of life (more commonly at day 2 or 3). In an infant <3 days old, sepsis may be a cause. Associated risk factors for sepsis are premature rupture of membranes, maternal infection, and fever.
What are the vital signs? If the temperature is lower than normal, cold stress or hypothermia associated with sepsis may be present. Hypotension may cause poor perfusion (see normal blood pressure values in Table 65–1 and Appendix C). Decreased urine output (<2 mL/kg/h) may indicate depleted intravascular volume or shock.
Is the liver enlarged? Are metabolic acidosis, poor peripheral pulse rate, and a gallop present? These problems are signs of failure of the left side of the heart (eg, hypoplastic left heart syndrome). Poor perfusion occurs because of reduced blood flow to the skin.
If mechanical ventilation is being used, are chest movements adequate and are blood gas levels improving? Inadequate ventilation can result in poor perfusion. Pneumothorax may also be a cause.
Are congenital anomalies present? Persistent cutis marmorata (see Section III.A.12) may be seen in Cornelia de Lange syndrome and in trisomy 18 and 21. Chromosome 22q11 deletion syndrome can present with abnormal vascular tone with hypotension. Cornelia de Lange syndrome consists of multiple congenital anomalies: a distinctive facial appearance, pre- and postnatal growth deficiency, feeding problems, psychomotor delay, behavioral problems, and malformations that mainly involve the upper extremities.
III. DIFFERENTIAL DIAGNOSIS
More common causes
Cold stress/hypothermia. In general, a skin temperature <36.5°C.
Hypotension usually with shock.
Hypoglycemia can mimic hypoxemia, and poor perfusion can be seen.
Polycythemia with hyperviscosity. Infants have sluggish capillary refill and poor peripheral perfusion.
Acute hemorrhagic anemia due to acute blood loss can present with symptoms of hypovolemia including poor perfusion, hypotension, tachycardia, and pallor. A decrease in peripheral perfusion occurs with a 10% loss of blood volume.
Necrotizing enterocolitis (NEC).
Left-sided obstructive heart disease. Newborns with critical left-sided obstructive lesions (ductal-dependent systemic circulation) generally appear normal at birth, and when the ductus arteriosus begins to close, they have cardiac failure with systemic hypoperfusion (poor perfusion with cold, clammy, mottled skin), poor peripheral pulses, increasing metabolic acidosis, and shock. Cyanosis may not be seen until later. One study showed that the majority of infants presented with shock, approximately one-third presented with heart failure, and a small percentage presented with profound cyanosis. These diseases include hypoplastic left heart syndrome (HLHS), critical aortic stenosis (AS), coarctation of the aorta (COA) (with or without septal defect), and interrupted aortic arch (IAA). When the ductus closes, infants with COA and IAA have hypoperfusion of the lower half of the body, and infants with AS and HLHS ...
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