Clinical utility of electrophysiological evaluation in Crigler-Najjar syndrome.
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.
Perretti
A
A
Department of Neurological Sciences, University of Naples Federico II, Naples, Italy.
Crispino
G
G
Marcantonio
L
L
Lenta
S
S
Caropreso
M
M
Manganelli
F
F
Scianguetta
S
S
Iorio
R
R
Iolascon
A
A
Vajro
P
P
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D003414:Crigler-Najjar Syndrome / Q000175:diagnosis / Q000503:physiopathology* / Q000601:surgery; D004569:Electroencephalography; D004594:Electrophysiology; D005071:Evoked Potentials / Q000502:physiology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D016031:Liver Transplantation / Q000379:methods; D008297:Male; D009460:Neurologic Examination; D010812:Physical Stimulation / Q000379:methods; D011930:Reaction Time