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Lesch Nyhan Syndrome (LNS) is a rare hereditary disorder with an incidence of 1 in 380,000. It is a condition characterized by neurological and behavioral abnormalities and uric acid over production in the body. The authors here report a case where developmental delay, a common presentation was complicated by presence of pathological jaundice in neonatal period. It was further complicated by parents shifting to another country and lost to follow up. By the time case was diagnosed and parental counseling was done, mother was already pregnant and 20 weeks into her 2nd pregnancy and abortions were prohibited by law in that country. It is unfortunate that 2nd child is also a male child who is affected.
Field : Sosyal, Beşeri ve İdari Bilimler
Journal Type : Uluslararası
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