Dandy-Walker variant in an infant prenatally exposed to antiretroviral medication.

Abstract

We report a case of Dandy-Walker variant (DWV) in the infant of a 35-year-old woman who received treatment for human immunodeficiency virus type 1 (HIV) and tuberculosis. She received stavudine (D4T) lamivudine (3TC) nevirapine and cotrimoxazole throughout pregnancy and isoniazid rifampicin pyrazinamide and ethambutol from before pregnancy until 29 weeks gestation when DWV was detected on antenatal ultrasound. She had no history of genetic disorders consanguinity and alcohol or recreational drug use. Amniocentesis revealed a normal male karyotype. Serology for cytomegalovirus and toxoplasmosis did not indicate recent infection. The infant was full-term and appropriate for gestational age with a normal head circumference no dysmorphism and no clinical features of HIV infection. Cranial ultrasound confirmed the presence of DWV and mild ventriculomegaly. DWV is part of a continuum of rare developmental abnormalities of the posterior brain fossa. It includes cystic dilatation of the fourth ventricle and partial agenesis of the cerebellar vermis. Only in a minority of cases is there a known cause such as a chromosome abnormality or other genetic syndrome or teratogen -especially alcohol. The developmental mechanism is unknown but relates to abnormal hindbrain development at 7 - 8 weeks gestation. Its prognosis varies from normality to severe neurodevelopmental delay with hydrocephalus. (excerpt)