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Neuropediatrics 2007; 38(4): 173-178
DOI: 10.1055/s-2007-991147
Original Article

© Georg Thieme Verlag KG Stuttgart · New York

Clinical Utility of Electrophysiological Evaluation in Crigler-Najjar Syndrome

A. Perretti 1 , G. Crispino 2 , L. Marcantonio 1 , S. Lenta 2 , M. Caropreso 2 , F. Manganelli 1 , S. Scianguetta 3 , R. Iorio 2 , A. Iolascon 3 , P. Vajro 2
  • 1Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
  • 2Department of Pediatrics, University of Naples Federico II, Naples, Italy
  • 3CEINGE - Advanced Biotechnology, University of Naples Federico II, Naples, Italy
Further Information

Publication History

received 05.04.2007

accepted 05.09.2007

Publication Date:
04 December 2007 (online)

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Abstract

We evaluated the neurological and neurophysiological features in ten patients with genetically characterized Crigler-Najjar (CN) syndrome: four with typical type I CN had undergone orthotopic liver transplantation (OLT); six had type II CN, and three of them developed severe hyperbilirubinemia with a limited response to phenobarbital leading to an intermediate phenotype I/II. Clinical neurological and multimodal electrophysiological evaluations [electroencephalogram (EEG), visual (VEPs), motor (MEPs) and brainstem auditory (BAEPs) evoked potentials] were performed. Neurological examinations showed mild hand tremor in four patients (one pre-OLT and one post-OLT type I, two type I/II). EEG revealed high voltage paroxysmal discharges in four patients (three type I/II, and one type I with a marked improvement after OLT). VEPs showed P100 wave increased latency in five patients (three type I, and two type I/II considered for OLT evaluation). MEPs showed prolonged central motor conduction time in five patients (two type I; one type I/II; two type II). Only EEG and VEPs findings showed a correlation with high bilirubin levels. BAEPs were normal. In conclusion, VEPs and EEG contribute to identify and monitor bilirubin neurotoxic effects, and may play a decisional role in some cases of severe hyperbilirubinemia without overt neurologic damage.

Key words

Crigler-Najjar syndrome - electrophysiological features - UGT1A1 gene

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Correspondence

Prof. P. Vajro

Dipartimento di Pediatria

Universita’ di Napoli

“Federico II”

Via S. Pansini 5

80131 Napoli

Italy

Phone: +39/081/746 26 77

Fax: +39/081/546 98 11

Email: vajro@unina.it