A newborn boy is being evaluated in the nursery. He was born via normal spontaneous vaginal delivery with no complications. His mother did not receive prenatal care during pregnancy, and the estimated gestational age by her last menstrual period is 39 weeks. The infant has a weight of 2.4 kg (5 lb, 3 oz, 1st percentile), length of 46 cm (18 in, 2nd percentile), and head circumference of 32 cm (12.6 in, 2nd percentile). Physical examination shows a nondysmorphic, small for gestational age infant with several nonblanching, purpuric lesions over his trunk, face, and extremities. Red reflex is absent bilaterally. Cardiac examination reveals a continuous murmur that is loudest over the left infraclavicular region, and an enlarged spleen and liver are palpated in the abdomen. The patient fails the newborn hearing test bilaterally. Head ultrasound is normal. Which of the following is the most likely diagnosis for this patient?

Question

A newborn boy is being evaluated in the nursery.  He was born via normal spontaneous vaginal delivery with no complications.  His mother did not receive prenatal care during pregnancy, and the estimated gestational age by her last menstrual period is 39 weeks.  The infant has a weight of 2.4 kg (5 lb, 3 oz, 1st percentile), length of 46 cm (18 in, 2nd percentile), and head circumference of 32 cm (12.6 in, 2nd percentile).  Physical examination shows a nondysmorphic, small for gestational age infant with several nonblanching, purpuric lesions over his trunk, face, and extremities.  Red reflex is absent bilaterally.  Cardiac examination reveals a continuous murmur that is loudest over the left infraclavicular region, and an enlarged spleen and liver are palpated in the abdomen.  The patient fails the newborn hearing test bilaterally.  Head ultrasound is normal.  Which of the following is the most likely diagnosis for this patient?

Quizplus · Accepted Answer

Explanation: 11ec2b69_c17a_222b_8f63_173f035b1022_MD0005_00 Congenital rubella syndrome (CRS) is a rare but debilitating complication of prenatal rubella infection, especially if the infection occurred during the first trimester. CRS classically presents with ocular abnormalities, sensorineural hearing loss, and cardiac defects. In addition to a failed hearing screen, this patient has an absent red reflex bilaterally, suggestive of cataracts, and a continuous cardiac murmur consistent with a patent ductus arteriosus, both classic findings of CRS. Low birth weight and microcephaly are also common, although brain imaging is typically normal, as in this patient. In addition, purpuric lesions ("blueberry muffin" rash, blue/purple nonblanching nodules) may be present in a minority of cases due to extramedullary hematopoiesis. Prenatal screening for rubella is critical as counseling can be provided about the potential complications of prenatal infection. Administration of the measles-mumps-rubella vaccine prior to conception can prevent infection, but the vaccine cannot be offered during pregnancy as it is a live-attenuated vaccine. Rubella infection in unimmunized adults may cause a transient maculopapular rash and joint pain that self-resolves. Acute rubella infection is treated with supportive care, including during pregnancy. maculopapular rash (Choices A and E) Congenital cytomegalovirus and toxoplasmosis can also present with hepatosplenomegaly, purpuric lesions, and sensorineural hearing loss. Imaging, however, typically reveals periventricular calcifications in congenital cytomegalovirus and intracerebral calcifications in toxoplasmosis. (Choice B) Congenital herpes simplex virus (HSV) occurs after primary maternal HSV infection during pregnancy and can present with hydrops fetalis and fetal demise. Ascending HSV infection contracted during labor and delivery is characterized by vesicular lesions, meningitis, or disseminated disease. This infant has none of these features. (Choice D) Although most neonates with congenital syphilis are initially asymptomatic, many develop hepatomegaly, jaundice, and rhinitis. A rash may be present but is typically maculopapular, not purpuric. Cardiac and ocular abnormalities are not seen. Educational objective: Congenital rubella syndrome presents with sensorineural hearing loss, patent ductus arteriosus, and cataracts. Infants typically have low birth weight and microcephaly; purpuric lesions ("blueberry muffin" rash) occur in a minority of cases. References: Fetal and neonatal abnormalities due to congenital rubella syndrome: a review of literature. (http://www.ncbi.nlm.nih.gov/pubmed/27002428) Rubella. (http://www.ncbi.nlm.nih.gov/pubmed/17337363)

A Newborn Boy Is Being Evaluated in the Nursery