The Turkish Journal of Pediatrics 2014 , Vol 56 , Num 5
Bilateral Congenital Cataracts in an Infant with Klinefelter Syndrome
Departments of 1Pediatric Genetics, 2Medical Genetics, 3Ophthalmology, and 4Pediatric Gastroenterology, Akdeniz University Faculty of Medicine, Antalya, Turkey.
Received: 31 January 2014, Accepted: 25 March 2014
Congenital cataract is one of the most treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of approximately 2.5:10,000 infants under the age of 1 year. Congenital cataract can be observed with certain chromosomal abnormalities, such as trisomies, deletions, translocations and Turner syndrome. In Klinefelter syndrome, however, ocular complications and cataract are not commonly encountered, so reports in the literature are very rare.

In this manuscript, we present a 3-month-old male infant who had congenital cataracts. Chromosomal analysis revealed that his karyotype was 47,XXY. He did not show any of the main clinical signs of Klinefelter syndrome because of his very young age. To the best of our knowledge, our patient is only the second-ever case reported in the literature in which congenital cataracts have been found in an infant with a nonmosaic 47,XXY karyotype. The aim of the present report is to both describe the ocular abnormalities that can sometimes be found in Klinefelter syndrome and to emphasize the importance of performing a karyotype analysis in order to rule out chromosome abnormalities in patients with congenital cataracts. Keywords : Klinefelter syndrome, congenital cataract, karyotype analysis, infant.

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