Fetal varicella syndrome: association with multiple hepatic calcifications and intestinal atresia

Sir, Fetal varicella syndrome (FVS) is a rare complication of maternal varicella infection. Imaging is often requested to evaluate associated abnormalities. We recently encountered a child with FVS and multiple anomalies including jejunoileal atresia and diffuse hepatic calcifications. The mother contracted varicella during the 8 th gestational week, underwent a cesarean section at 36 gestational weeks for fetal intrauterine growth retardation, and delivered a 1760-g boy. Physical examination of the baby revealed multiple varicella scars on the trunk, forehead, and both lower extremities. No active vesicles were present. The right fifth toe was absent with a necrotic stub. Ophthalmologic examination revealed findings compatible with bilateral varicella retinopathy. The abdomen was distended but non-tender, and an abdominal X-ray demonstrated multiple distended loops of bowel without evidence of colonic gas. Multiple small punctate calcifications were present overlying the right upper quadrant. A water-soluble enema showed a small-caliber colon without reflux into the small bowel. A limited upper gastrointestinal examination revealed a normal position of the duodenal-jejunal junction. An exploratory laparotomy showed jejunoileal atresia. A liver ultrasound, performed for hyperbilirubinemia, demonstrated multiple, small, punctate echogenicities throughout the liver parenchyma consistent with focal calcifications (Fig.1). Although an initial cranial sonography was normal, the patient demonstrated developmental delay and motor spasticity, consistent with cerebral palsy, by 1 year of age. The patient is blind in the right eye. The association between maternal varicella infection in the first trimester and resultant congenital malformations was first described by LaForet and Lynch in 1947 [1]. Fetal varicella syndrome is rare because most women of childbearing age have already established immunity to the varicella virus [2]. More than 80% of children have had chickenpox by 10 years of age [3]. More than 85% of adults who report that they have not had chickenpox are actually seropositive for the varicella zoster virus antibodies [3]. Also, because there is a low propensity for the varicella virus to cross the placenta, the risk of developing FVS even when maternal varicella infection has occurred is only 2.2 % [3]. FVS is most likely to occur when the maternal infection occurs between the 8 th and 20th weeks of gestation [1–3]. Common characteristic features of FVS include skin lesions (100%), central nervous system abnormalities (77%), retinopathy (68%), and skeletal anomalies (68%), most commonly hypoplasia of the extremities or digits [2]. Gastrointestinal anomalies have also been described but occur less commonly (23%) [2]. The congenital defects seen in FVS are thought to be due to the strong neurotropic affinity of the varicella virus [2]. The virus can cause necrosis of neuronal cells with associated demyelination of axons [2]. The resultant denervation can cause a decrease in muscle mass and bone growth, leading to secondary limb or digit hypoplasia [4, 5]. This patient demonstrated absence of the right fifth toe. Structural gastrointestinal anomalies reported in association with FVS include duodenal stenosis, dilated jejunum, small left colon, and atresia of the sigmoid colon [2]. Our patient exhibited jejunoileal atresia. There has been much debate regarding whether intestinal atresia arises from a true malformative process or from an in utero insult resulting in ischemia/inflammation [6]. Hepatic calcifications have been described in association with congenital infections [7]. The diffuse hepatic calcifications seen in this patient are presumably related to disseminated in utero infection [7].