Case report: Severe central nervous system manifestations associated with aberrant efavirenz metabolism in children: the role of CYP2B6 genetic variation.

ABSTRACT:

Background

Efavirenz, widely used as part of antiretroviral drug regimens in the treatment of paediatric human immunodeficiency virus infection, has central nervous system side effects. We describe four children presenting with serious, persistent central nervous system adverse events who were found to have elevated plasma efavirenz concentrations as a result of carrying CYP2B6 single nucleotide polymorphisms, known to play a role in the metabolism of EFV. None of the children had a CYP2B6 wildtype haplotype. We believe this is the first case of cerebellar dysfunction associated with efavirenz use to be described in children.

Case presentation

Four black African children, between the ages of 4 and 8 years presenting between 1 and 20 months post-efavirenz initiation, are desc

SUBMITTER: Pinillos F 

PROVIDER: S-EPMC4735961 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature