A Neurophysiological Study in Children and Adolescents with Crigler-Najjar Syndrome Type I

Abstract

We studied the neurophysiological features of five patients (age range: 4-20 years) suffering from Crigler-Najjar syndrome type I (CNsI) by means of multimodal (brainstem, somatosensory, motor) evoked potentials and periodic EEC-polygraphic recordings (follow-up: 3 months - 4.5 years). Two patients presented with neurological disturbances, consisting mainly of mental slowing, motor impairment and seizures. Both of them presented an abnormal EEC, characterized by slowing of background activity associated with paroxysmal discharges. Liver transplantation was per-formend in one of these two patients and was followed by improvement of both the neurological picture and EEG activity. In a third patient, clinically normal, after two years of follow-up, the EEC started to show paroxysmal activity during sleep or when evoked by intermittent photic stimulation. In these three patients, multimodal evoked potentials were unremarkable. The remaining two younger subjects did not show any clinical or EEC abnormality. Our findings suggest that, whereas in newboms and infants evoked potentials have been demonstrated as reliable techniques to monitor bilirubin neurotoxicity, in children and adolescents with CNsI, EEC seems to be more sensitive in evaluating patients for neurological damage and effectiveness of therapeutic strategies adopted.

Key words

Crigler-Najjar syndrome - Electroencephalography - Bilirubin neurotoxicity - Kernicterus.