Physical Exam Key Points

1. Vital signs. Tachypnea is a common reaction to stress in the neonate. When acidosis or hyperammonemia, or both, are present, hyperpnea (deep and rapid breathing) is often seen. Fever suggests infection, which can occur as a primary or secondary phenomenon in metabolic disease.

2. HEENT. A full fontanelle can accompany meningitis and hyperammonemia (secondary to cerebral edema). Altered pupillary reactions with subsequent herniation can occur if untreated. If cataracts are present, consider galactosemia. Dry mucous membranes can indicate dehydration from poor feeding of any etiology.

3. Abdomen. Transient hepatomegaly can accompany many of the metabolic disorders. It is typical in disorders of energy production (eg, FAO defects and disorders of gluconeogenesis), resolving when metabolic stability is attained. Progressive hepatomegaly can be seen in the glycogen storage disorders.

4. Neurologic exam. Mental status changes are a common finding in neonates in distress. Metabolic considerations include hypoglycemia, hyperammonemia, and severe acidosis. Hyperreflexia and clonus can result from hyperammonemia-induced cerebral edema.

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