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

Cerebral Palsy
Congenital TORCH Infections
Fetal Alcohol Syndrome
Genetics of Hyperammonemia
Head Trauma
Hearing Impairment
Hypoxic-Ischemic Brain Injury in the Newborn
Neonatal Sepsis
Pediatric Bacterial Meningitis
Pediatric Herpes Simplex Virus Infection
Pediatric Hypothyroidism
Pediatric Periventricular Leukomalacia

Workup

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Media Gallery

Kernicterus. Typical patterns of total serum bilirubin levels in neonates of different racial origins. Used with the permission of the Academy of Pediatrics.
Kernicterus. Overview of bilirubin metabolism.
Kernicterus. Hour-specific nomogram for total serum bilirubin and attendant risk of subsequent severe disease in term and preterm infants. Used with the permission of the Academy of Pediatrics.
Kernicterus. Magnetic resonance image of a 21-month-old with kernicterus. The area of abnormality is the symmetric high-intensity signal in the area of the globus pallidus (arrows). Courtesy of MJ Maisels.
Kernicterus. Neuronal changes observed in kernicterus. Courtesy of JJ Volpe.

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Author

Shelley C Springer, JD, MD, MSc, MBA, FAAP Professor, University of Medicine and Health Sciences, St Kitts, West Indies; Clinical Instructor, Department of Pediatrics, University of Vermont College of Medicine; Clinical Instructor, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health

Shelley C Springer, JD, MD, MSc, MBA, FAAP is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Coauthor(s)

David J Annibale, MD Professor of Pediatrics, Medical University of South Carolina College of Medicine; Director of Neonatology, Director of Fellowship Training Program in Neonatal-Perinatal Medicine, Department of Pediatrics, Division of Neonatology, MUSC Children's Hospital

David J Annibale, MD is a member of the following medical societies: American Academy of Pediatrics, National Perinatal Association

Disclosure: Editorial staff for AAP NeoREVIEWS PLUS (includes reimbursement for meeting expecnses and $300 honorarium; Advisory meetings for the National Certification Corp. development of a QI certification test. (includes all expenses without honorarium) for: American Academy of Pediatrics, National Certification Corp.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David A Clark, MD Professor and Martha Lepow Chairman of Pediatrics, Professor of Obstetrics and Gynecology, Albany Medical College; Director, Children's Hospital at Albany Medical Center

David A Clark, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Forestry Association, American Pediatric Society, Capital District Pediatric Society, Christian Medical and Dental Associations, European Society for Paediatric Research, Eastern Society for Pediatric Research, Floyd W Denny Pediatric Alumni Society, Medical Society of the State of New York, New York Academy of Sciences, Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Ted Rosenkrantz, MD Professor, Departments of Pediatrics and Obstetrics/Gynecology, Division of Neonatal-Perinatal Medicine, University of Connecticut School of Medicine

Ted Rosenkrantz, MD is a member of the following medical societies: American Academy of Pediatrics, American Pediatric Society, Eastern Society for Pediatric Research, American Medical Association, Connecticut State Medical Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Oussama Itani, MD, FAAP, FACN Clinical Associate Professor of Pediatrics and Human Development, Michigan State University; Medical Director, Department of Neonatology, Borgess Medical Center

Oussama Itani, MD, FAAP, FACN is a member of the following medical societies: American Academy of Pediatrics, American Association for Physician Leadership, American Heart Association, American College of Nutrition

Disclosure: Nothing to disclose.

Kernicterus Differential Diagnoses

Diagnostic Considerations

Differential Diagnoses

References

Tables

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