This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Shevell, M. I. Articles by Schiff, D. Search for Related Content PubMed PubMed Citation Articles by Shevell, M. I. Articles by Schiff, D. Pubmed/NCBI databases OMIM Social Bookmarking                   What's this?

Neurologic Perspectives of Crigler-Najjar Syndrome Type I

Departments of Neurology/Neurosurgery, Pediatrics, Human Genetics, McGill University, Montreal, Quebec

Annette Majnemer, PhD

Departments of Neurology/Neurosurgery, Pediatrics, Human Genetics, McGill University, Montreal, Quebec, School of Physical & Occupational Therapy McGill University, Montreal, Quebec

David Schiff, MD, CM, PhD, FRCPC

Department of Pediatrics University of Alberta, Edmonton, Alberta, Canada

Limited information exists on the neurologic sequelae of Crigler-Najjar syndrome type I despite this being the major morbidity of this rare autosomal recessive disorder of bilirubin conjugation that results in chronic unconjugated hyperbilirubinemia. Two patients with identical underlying genetic mutations resulting in Crigler-Najjar syndrome type I were assessed from a neurodevelopmental perspective in late childhood using age appropriate standardized measures. In addition, the English language literature of case reports and series describing the outcomes of patients with this disorder was reviewed (descriptive meta-analysis) and summarized with particular reference to neurologic symptomatology, pattern of neurologic disability, age of onset of symptoms, and therapeutic interventions. Despite radically different therapeutic interventions, our two patients did not differ in outcome measures. Review of the literature reveals distinct, often age-related, patterns of neurologic sequelae reflecting injury to basal ganglia, cerebellar, and likely hippocampal structures. Definitive prevention of the neurologic sequelae that often occur within the context of Crigler-Najjar syndrome type I requires that curative treatment (hepatic transplantation, presently, and gene therapy in the future) be applied prior to the possible onset of neurologic symptoms in adolescence. (J Child Neurol 1998;13:265-269).

Journal of Child Neurology, Vol. 13, No. 6, 265-269 (1998)
DOI: 10.1177/088307389801300605


CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?