Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature.
Turk J Pediatr
; 55(3): 349-53, 2013.
Article
em En
| MEDLINE
| ID: mdl-24217087
ABSTRACT
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Crigler-Najjar
/
Síndromes Neurotóxicas
/
Irmãos
/
Monitorização Neurofisiológica
Tipo de estudo:
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Turk J Pediatr
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Turquia