Published online November 1, 2005
PEDIATRICS Vol. 116 No. 5 November 2005, pp. 1226-1230 (doi:10.1542/10.1542/peds.2004-2468)
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EXPERIENCE AND REASON

Clinical (Video) Findings and Cerebrospinal Fluid Neurotransmitters in 2 Children With Severe Chronic Bilirubin Encephalopathy, Including a Former Preterm Infant Without Marked Hyperbilirubinemia

Stephanie L. Merhar, MD* and Donald L. Gilbert, MD{ddagger},§

* University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
{ddagger} Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio
§ Department of Neurology, University of Cincinnati School of Medicine, Cincinnati, Ohio

Chronic bilirubin encephalopathy, characterized clinically by extrapyramidal movement abnormalities, vertical gaze abnormalities, and hearing loss, results from neuronal injury after marked hyperbilirubinemia in term and preterm infants. In premature infants, bilirubin staining of specific brain structures has been described at autopsy after only moderate hyperbilirubinemia, but classic chronic bilirubin encephalopathy without marked hyperbilirubinemia has been reported only rarely. We report a case of a 7-year-old, former 29-weeks' gestation, gravely ill premature infant with a peak bilirubin level of 13.3 mg/dL in the neonatal period. We compare this case with a 12-year-old, former term infant with a peak bilirubin level of 49.4 mg/dL on day 10 of life. Both children have dystonia, athetosis, upward gaze palsy, and sensorineural hearing loss, with MRIs showing characteristic abnormal signal in the globus pallidus. We add previously unreported cerebrospinal fluid neurotransmitter levels that show a mild decrease in the dopamine metabolite homovanillic acid in the former premature infant only.

Key Words: bilirubin • bilirubin-albumin binding • cerebrospinal fluid • kernicterus • neuroimaging

Abbreviations: CSF, cerebrospinal fluid • TPN, total parenteral nutrition

Accepted Feb 4, 2005.


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