Introduction: Early intrauterine infection with varicella zoster virus (VZV) (incidence: 0.4% before 13 wks, 2% between 13-20 wks) results in Congenital Varicella Syndrome (CVS) affecting multiple organs. Clinical, molecular and autopsy findings of CVS, acquired at 12 weeks of gestation, are reported.
Clinical findings: Antenatal sonography at 26 weeks demonstrated polyhydramnion, impaired fetal growth, left limb hypoplasia, clubbed foot and abdominal calcifications. VZV DNA was detected by polymerase chain reaction (PCR) in amniotic fluid. Propositus, born at 37 weeks exhibited symmetrical growth retardation, characteristic segmental cutaneus scar and limb hypoplasia. Ocular abnormalities were absent. Hypotonia and seizures were noticed. Brain MRI showed pachygyria and hemicerebellar hypoplasia. CT abdomen revealed meconium peritonitis, gut obstruction and pyeloureteral distension. The patient expired on day 4.
Autopsy findings: Multiple calcified atretic smal bowel segments with preatretic dilatations were obvious. Microscopy showed destruction of ganglion cells in mesenteric plexus. Dystrofic calcifications were present in mesenteric plexus, lung, liver parenchym and urinary bladder wall. Central liver veins were surrounded by active lymphohistiocytic inflammation. Peri-adrenal ganglion cells contained eosinophylic inclusion bodies. Brain inspection demonstrated right cerebellar hypoplasia. Nested PCR detected VZV DNA in affected organs.
Discussion: Neurologic features, due to inflammatory, destructive effects and developmental derangements, are prominent. Propositus showed pachygyria and hemicerebellar hypoplasia indicating interference with normal central nervous development. Destruction of periferal nervous tissue resulted in severe bowel pathology. Though primo-infection occurred weeks before, we could prove active inflammation in neuronal and non-neuronal tissues.