Chronic bilirubin encephalopathy: diagnosis and outcome

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Summary

Chronic bilirubin encephalopathy (kernicterus) can be diagnosed using semi-objective criteria based on history, physical and neurological examination and laboratory findings including auditory brainstem responses and magnetic resonance imaging. Classical kernicterus is a well-described clinical tetrad of (i) abnormal motor control, movements and muscle tone, (ii) an auditory processing disturbance with or without hearing loss, (iii) oculomotor impairments, especially impairment of upward vertical gaze, and (iv) dysplasia of the enamel of deciduous teeth. Subtle kernicterus or bilirubin-induced neurologic dysfunction (BIND) refers to individuals with subtle neurodevelopmental disabilities without classical findings of kernicterus that, after careful evaluation and consideration, appear to be due to bilirubin neurotoxicity. Kernicterus can be further classified as auditory predominant or motor predominant and characterized based on the severity of clinical sequelae. Proposed research definitions for kernicterus diagnosis in infants from 3 to 18 months are reviewed, as are treatments of auditory and motor deficits and other complications of bilirubin encephalopathy.

Section snippets

Diagnosis of chronic bilirubin encephalopathy (kernicterus)

The classic form of chronic bilirubin encephalopathy is also called kernicterus, originally a pathological term referring to the yellow staining (-icterus) of the deep nuclei of the brain (kern-, relating to the basal ganglia). The terms acute and chronic bilirubin encephalopathy are used to describe the clinical symptoms associated with the neuropathology. Common usage of the term kernicterus has expanded to include clinical bilirubin encephalopathy, and modern testing provides objective

Classification of kernicterus

Current means of diagnosing and treating kernicterus necessitate new clinical definitions. Recently, we have suggested that classical kernicterus be differentiated from subtle kernicterus, also known as bilirubin-induced neurological dysfunction (BIND), and further subdivided by a number of criteria including location and severity.26

Prediction of outcome

There are no data to determine whether history, exam, and laboratory tests predict the severity of outcome. Certainly, higher and longer duration of excessive hyperbilirubinemia and acute bilirubin encephalopathy, and more abnormal ABR and MRI abnormalities, predict a poorer outcome in the author's experience. However, the author has occasionally been surprised at children whose outcome are much better than expected, although the difference in outcome is usually about one category of severity,

Conclusion

Chronic bilirubin encephalopathy, also known as kernicterus, can be diagnosed following semi-objective criteria based on history, physical examination and laboratory findings. I find it useful to categorize kernicterus as mild, moderate, severe, and as classical, auditory predominant, motor predominant, and subtle. Common terminology and criteria for establishing the neurological sequelae of neonatal bilirubin toxicity and the diagnosis of kernicterus will be useful for evaluating the variety

Acknowledgement

The author would like to thank Dr Michael J. Painter for reviewing this manuscript and making many useful suggestions.

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