The Turkish Journal of Pediatrics
2013 , Vol 55 , Num 3
Neurophysiological Follow-Up of Two Siblings with Crigler-Najjar Syndrome Type I and Review of Literature
Divisions of 1Pediatric Neurology, and 2Pediatric Gastroenterology, Department of Pediatrics, Dokuz Eylül University Faculty
of Medicine, and 3Transplantation Unit, Kent Hospital, İzmir, Turkey. E-mail: dr.erhanbayram@yahoo.com
Crigler-Najjar syndrome type I is an autosomal recessive inherited disease
and rarely seen in childhood. Bilirubin neurotoxicity is the morbidity of the
disease due to the elevated unconjugated bilirubin levels. Mental retardation,
seizures, cognitive dysfunction, oculomotor nerve palsy, ataxia, choreoathetosis,
and spasticity may be seen. Due to the high bilirubin levels, alterations in
the neurophysiological studies may be detected. In this study, we describe
two siblings who were diagnosed with Crigler-Najjar syndrome type I who
underwent a successful liver transplantation using a single cadaveric organ,
together with their neurophysiological follow-up and review of the literature.
Keywords :
Crigler-Najjar syndrome, bilirubin neurotoxicity, neurophysiological
studies, children.