Kernicterus Differential Diagnoses

Updated: Dec 20, 2020
  • Author: Shelley C Springer, JD, MD, MSc, MBA, FAAP; Chief Editor: Ted Rosenkrantz, MD  more...
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Diagnostic Considerations

Theoretically, most cases of kernicterus may be completely prevented by initiation of phototherapy in every baby shortly after birth. Therefore, this devastating neurologic disease could be prevented most of the time. As such, a significant component of medicolegal liability is introduced into the management of hyperbilirubinemia. Clinical reports of kernicterus in the absence of profound hyperbilirubinemia, coupled with the lack of definitive standards of care for the initiation of phototherapy, further complicate this exposure. As with all medical care, conformity with published clinical guidelines, rationale for departure from accepted clinical norms, and good documentation are the best defenses.

The numerous areas of uncertainty surrounding the diagnosis and treatment of hyperbilirubinemia in the infant, coupled with the infrequency of sequelae, foster a cavalier attitude about the evaluation of an infant with jaundice. However, remembering that physiologic hyperbilirubinemia is a diagnosis of exclusion is important, and kernicterus, when it occurs, is devastating. Therefore, failure to evaluate or provide reasonable follow-up of infants at risk for the development of severe hyperbilirubinemia may place the clinician in a position that could be difficult to defend.

Definitive recommendations from the American Academy of Pediatrics (AAP) regarding in-hospital evaluation and treatment for hyperbilirubinemia in the late preterm and term infant (>35 weeks estimated gestational age), as well as interval and methodology for outpatient follow-up, provide useful clinical parameters and now form a standard of care against which individual patient care may be judged. Many hospitals have developed clear documents that outline the standard for evaluation and treatment of hyperbilirubinemia, and some of these risk-management approaches have appeared in the medical literature. That being said, learned minds the world over acknowledge the lack of evidence directing best practice for neonatal hyperbilirubinemia and the complexities that will always demand individualized treatment approaches. [10, 24]

Sepsis must always be excluded in the infant with jaundice. Uncommon, but treatable, metabolic causes of jaundice include hypothyroidism and galactosemia. The first sign of occult immune or nonimmune hemolytic disease may be hyperbilirubinemia. Failure by the clinician to diagnose an underlying etiology results in considerable medicolegal exposure.

Differential Diagnoses