Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature

Bayram E., ÖZTÜRK Y., HIZ A. S., Topcu Y., Kilic M., Zeytunlu M.

TURKISH JOURNAL OF PEDIATRICS, cilt.55, sa.3, ss.349-353, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 3
  • Basım Tarihi: 2013
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.349-353
  • Anahtar Kelimeler: Crigler-Najjar syndrome, bilirubin neurotoxicity, neurophysiological studies, children, BILIRUBIN ENCEPHALOPATHY, LIVER-TRANSPLANTATION, CEREBELLAR SYMPTOMS, HYPERBILIRUBINEMIA, KERNICTERUS, TERM, GILBERT, ADOLESCENTS, PREVENTION, MANAGEMENT
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.