A rare case of congenital rubella: NEJM

Jyoti Natala and Sheetal Shirke reported a unique case of congenital rubella syndrome in an infant which appeared in the New England Journal of Medicine.

The case describes an 8-month-old child who was brought to pediatric ophthalmology services by his parents, reported that he had had white opacities in both eyes and “shaky” eyes since 4 months of age.

On examination, the child had wandering eye movements with bilateral central, dense, white, nuclear congenital cataracts (Panel A), bilateral microcornea (corneal diameter in each eye, 10 mm), bilateral microphthalmia (axial length of each eye, 17 mm), and nystagmus.

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The fundus examination of the patient revealed a normal optic disk with rubella retinopathy — a classic salt-and-pepper appearance of the retina that is due to the distribution of areas of increased and decreased pigmentation (Panel B). His serum studies showed IgM and IgG antibodies that were positive for rubella. The status of rubella immunity of mother of patient was not known; the mother had not been vaccinated.

Courtesy: NEJM

A diagnosis of the congenital rubella syndrome was made. The child underwent cataract surgery (lens aspiration with primary posterior capsulotomy and anterior vitrectomy) in each eye, with 1 week between surgeries. Postoperative visual rehabilitation was done with the help of customized, soft, extended-wear, lenticular contact lenses over the corneas of both aphakic eyes. Further evaluation by a pediatric cardiologist revealed the presence of patent ductus arteriosus requiring ligation.

At the last follow-up visit, when the child was 5 years and 4 months of age, he had reduced nystagmus and improved binocular visual acuity of 20/60 (monocular vision, 20/80) and was living the normal life of a school-age child.

Congenital rubella syndrome (CRS) is an infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects. Vaccination before pregnancy can prevent the congenital rubella syndrome.

Reference,

https://www.nejm.org/doi/full/10.1056/NEJMicm1501815