A Rare Case of Buphthalmos and Bilateral Nuclear Cataracts in a Neonate With Congenital Rubella Syndrome

Abstract

BACKGROUND:Congenital rubella syndrome (CRS) is the second leading cause of nontraumatic childhood cataracts in India. While nuclear cataract is the most common abnormality reported in CRS, congenital glaucoma is a rarer manifestation. CASE REPORT: A 34weeks low birth weight, male neonate was born by vaginal delivery with normal APGARS. The neonate had sparse hypo pigmented hair over the scalp, along with hypopigmented eye brows and eye lashes. There were erythematous lesions over palms, soles and groin region. Eye examination revealed bilateral nuclear cataracts along with buphthalmos. The neonate also had clinical manifestations of PDA, which was confirmed by 2-D Echo. Systemic involvement was seen as hepatosplenomegaly and bilateral cryptorchidism. Hence CRS was suspected and further evaluation was done. There was thrombocytopenia, mild unconjugated hyperbilirubinemia with elevated transaminases. Neurosonogram was normal and there were no intra cranial calcifications. TORCH profile in both mother and baby showed elevated rubella IgM levels confirming CRS. The neonate received supportive and symptomatic treatment. DISCUSSION: congenital nuclear cataracts are reported in 60-80% of CRS, while buphthalmos is rarely seen, more so in neonatal period. PDA occurs in 50% of CRS and two-thirds have hepatosplenomegaly. Rubelliform rash is infrequent in neonates with CRS. CONCLUSION: We report a preterm low birth weight, male neonate with congenital rubella syndrome and its rare manifestations.

Bilateral buphthalmos with congenital cataract in a floppy infant

“…The coexistence of congenital glaucoma with congenital cataracts is a rare occurrence and has been reported in conditions such as congenital rubella syndrome, persistent hyperplastic primary vitreous (PHPV), and Peter’s anomaly. [ 1 2 ] Infants with congenital rubella syndrome with microphthalmos may present with a raised intraocular pressure with an apparently normal-sized cornea. Both cataracts and glaucoma can also develop in disorders such as oculo-cerebral-renal syndrome of Lowe (OCRL or Lowe syndrome), Patau syndrome, and homocystinuria.…”

Congenital Rubella Syndrome—Case Report

“…Characteristic cardiac defects that occur in CRS include PDA, pulmonary stenosis, and ventricular septal defect (VSD). Cardiac lesions are more frequently prevalent in neonates with ocular lesions [2,5,12].…”