Objective: To highlight the long- term sequelae of Kernicterus

Background: Kernicterus refers to the clinical features of chronic bilirubin encephalopathy which if not treated can lead to an extrapyramidal movement disorder, sensorineural hearing loss, and dental enamel dysplasia.

Method: We report a patient with a movement disorder secondary to kernicterus.

Results: 11 years old boy referred from Pediatric clinic to the Movement Disorders clinic for dystonia. The patient’s first presentation to the hospital was at the age of 4.5 yrs with developmental delay, inability to stand or walk, patient’s mother raised concerns about her son’s hearing impairment, as well as abnormal limb and head movements. The patient was born preterm in a rural hospital; a product of normal spontaneous vaginal delivery, birth weight of 1.8 kg. On day 5, he was admitted with neonatal jaundice needing exchange transfusions twice. When he was seen at the MD clinic, physical examination revealed limitation in upward gaze, head and neck dystonic posturing, he was mute, and had a hearing aid, he was unable to comprehend or follow commands. Optic discs were normal, tone was increased in all four limbs with hyper-reflexia and foot dystonia. Investigations revealed normal metabolic screen including very long chain fatty acids as well as other newborn screening tests. MRI brain showed bilateral high signal intensity in the peri-rolandic region on FLAIR sequence. An EEG showed intermittent bursts of generalized high voltage slow waves and poly-spike complex. The patient showed some response to Baclofen and Levodopa.

Conclusion: Perinatal hyperbilirubinemia needs to be treated aggressively, to prevent the chronic development of kernicterus and its devastating movement disorders sequelae. Kernicterus has become rare nowadays due to advanced neonatal care, however, some cases are still seen in less privileged areas of the world.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/the-sequelae-of-kernicterus/