Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature
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, atax...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2013-06-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/1512 |
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| author | Erhan Bayram Yeşim Öztürk Semra Hız Yasemin Topçu Murat Kılıç Murat Zeytunlu |
| author_facet | Erhan Bayram Yeşim Öztürk Semra Hız Yasemin Topçu Murat Kılıç Murat Zeytunlu |
| author_sort | Erhan Bayram |
| collection | DOAJ |
| description |
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.
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| format | Article |
| id | doaj-art-5cf5616a01be492abd684a2d3b297d65 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2013-06-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-5cf5616a01be492abd684a2d3b297d652025-08-20T03:01:15ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212013-06-01553Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literatureErhan Bayram0Yeşim ÖztürkSemra HızYasemin TopçuMurat KılıçMurat ZeytunluDivision of Pediatric Neurology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey. 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. https://turkjpediatr.org/article/view/1512 |
| spellingShingle | Erhan Bayram Yeşim Öztürk Semra Hız Yasemin Topçu Murat Kılıç Murat Zeytunlu Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature The Turkish Journal of Pediatrics |
| title | Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature |
| title_full | Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature |
| title_fullStr | Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature |
| title_full_unstemmed | Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature |
| title_short | Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature |
| title_sort | neurophysiological follow up of two siblings with crigler najjar syndrome type i and review of literature |
| url | https://turkjpediatr.org/article/view/1512 |
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