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Laboratory tests show profound hyponatremia that is not accounted for by
gastrointestinal losses. A sweat test or DNA analysis will help confirm the
diagnosis.
Rare inborn errors of metabolism, such as inherited urea cycle disorders , may
produce vomiting in young infants, who will then present with lethargy, seizures,
or coma resulting from metabolic acidosis, hyperammonemia, or hypoglycemia
(see Chapter 95 Metabolic Emergencies ). Galactosemia is due to a genetic defect
in the metabolism of galactose and presents with vomiting, acidosis, failure to
thrive, and jaundice when exposed to this sugar. Hypoglycemia and liver
dysfunction with coagulopathy are often present, and many develop urinary tract
infections or sepsis due to gram-negative organisms. Testing with a CBC,
electrolytes, bicarbonate, blood glucose, liver function (including coagulation
studies), urinalysis for ketones, and plasma ammonia levels is indicated in young
infants with gastroenteritis, lethargy, or irritability to evaluate for metabolic
conditions. Collect extra plasma (2 mL) and urine (5 mL) for additional testing,
ideally before providing fluid resuscitation and dextrose. Inquiry about neonatal
screening is important; consider sending a follow-up blood filter paper specimen
to the newborn screening laboratory. Rapid bedside testing for glucose and
sodium is recommended for immediate recognition and therapy. Hypoglycemia
also can be secondary to sepsis, certain drugs, or alcohol intoxication.
Young infants are incapable of accidental ingestions, but one should consider
toxins (see Chapter 102 Toxicologic Emergencies ) in certain cases. Wellmeaning parents may rarely cause salicylism in their attempts to aggressively
treat fever with aspirin. Affected infants can then present with vomiting,
hyperpnea, hyperpyrexia, convulsions, or coma. The history of medication given
is crucial because the physical examination will not distinguish this ill baby from
the infant with sepsis. The laboratory evaluation may lead to the suspicion of a
metabolic problem because abnormalities of sodium, blood sugar, or acid–base
balance are often found. Moreover, hypokalemia can be seen in salicylism, as
well as abnormal liver function or renal function studies. An elevated salicylate
level in the serum confirms the diagnosis of aspirin poisoning, but in chronic
poisoning, the aspirin level may be relatively low, even in patients with a fatal