A 2-month-old girl is brought to the office by her parents for an initial visit. The family recently moved to the area, and the patient has not been seen by a health care provider since hospital discharge. She was born via scheduled cesarean delivery at 39 weeks gestation. Routine prenatal serology was normal. The patient developed jaundice at age 2 days with total bilirubin of 11.2 mg/dL. Her 2-year-old sister also has a history of neonatal jaundice, which required phototherapy. The family has a dog and a cat, both of whom live inside. Weight, length, and head circumference are in the 5th percentile. There is mild hepatosplenomegaly and jaundice, and cardiac auscultation shows a soft I/VI systolic ejection murmur. Ultrasound of the head reveals punctate calcifications around the ventricular margin. For which of the following complications is this patient at greatest risk?

Question

A 2-month-old girl is brought to the office by her parents for an initial visit.  The family recently moved to the area, and the patient has not been seen by a health care provider since hospital discharge.  She was born via scheduled cesarean delivery at 39 weeks gestation.  Routine prenatal serology was normal.  The patient developed jaundice at age 2 days with total bilirubin of 11.2 mg/dL.  Her 2-year-old sister also has a history of neonatal jaundice, which required phototherapy.  The family has a dog and a cat, both of whom live inside.  Weight, length, and head circumference are in the 5th percentile.  There is mild hepatosplenomegaly and jaundice, and cardiac auscultation shows a soft I/VI systolic ejection murmur.  Ultrasound of the head reveals punctate calcifications around the ventricular margin.  For which of the following complications is this patient at greatest risk?

Quizplus · Accepted Answer

11ec25c8_d6ea_780a_bc81_31b3cf21859f_MD0003_00 This infant has hepatosplenomegaly, jaundice, and periventricular calcifications, findings consistent with congenital cytomegalovirus (CMV) infection, the most common congenital infection. Microcephaly and thrombocytopenia are also common presenting features. Approximately 10% of infants with congenital CMV are symptomatic (such as this patient). The most common sequela of congenital CMV infection is sensorineural hearing loss (SNHL), which can present as a failed hearing screen in a newborn or develop later in childhood. Treatment of symptomatic infants with antiviral therapy (eg, valganciclovir, ganciclovir) can preserve hearing function and improve neurocognitive development. Without treatment, up to 50% of patients with symptomatic congenital CMV develop SNHL. Asymptomatic neonates develop SNHL less frequently, but a diagnosis of congenital CMV should be considered in those with isolated SNHL. Less common, long-term sequelae of congenital CMV infection include dental and vision abnormalities. Developmental delays and learning disabilities can also occur and range from subtle to severe. Infants affected by maternal infection early in pregnancy (eg, first trimester) typically develop more serious complications. (Choices A and B) Infants with congenital rubella often have cataracts and a patent ductus arteriosus (PDA), which can cause prolonged left-to-right shunting and congestive heart failure. PDA presents with a continuous "machinelike" murmur, unlike this patient's likely physiologic, I/VI systolic murmur. In addition, congenital rubella does not present with periventricular calcifications, and cataracts and congenital heart disease are not associated with congenital CMV. (Choice C) Notched teeth (ie, Hutchinson teeth) are a late finding of untreated congenital syphilis. Neonatal presentation includes hepatosplenomegaly, jaundice, rhinitis, and a rash. CNS calcifications do not occur. Notched teeth (Choice D) Congenital toxoplasmosis causes chorioretinitis as well as obstructive hydrocephalus and parenchymal calcifications. In contrast, congenital CMV infection is associated with hydrocephalus ex vacuo (due to parenchymal volume loss) and periventricular calcifications. Educational objective: Sensorineural hearing loss is the most common sequela of congenital cytomegalovirus (CMV). To reduce the risk of hearing loss, antiviral therapy should be given to neonates with symptomatic CMV (eg, hepatosplenomegaly, jaundice, periventricular calcifications). References: Valganciclovir for symptomatic congenital cytomegalovirus disease. (http://www.ncbi.nlm.nih.gov/pubmed/25738669) Hearing loss and congenital CMV infection: a systematic review. (http://www.ncbi.nlm.nih.gov/pubmed/25349318) Hearing in children with congenital cytomegalovirus infection: results of a longitudinal study. (http://www.ncbi.nlm.nih.gov/pubmed/26858192)

A 2-Month-Old Girl Is Brought to the Office by Her