Author | Arvind Vasudevan, MD

Articles

Photoclinic: Lesch-Nyhan Syndrome

May 01, 2006

This 14-year-old boy has Lesch-Nyhan syndrome. The picture shows chronic scarring of the lip--a result of self-mutilating behavior that characterizes this syndrome. Lesch-Nyhan syndrome is also characterized by dystonia, choreoathetosis, and mental retardation--all of which are associated with hyperuricemia, write Arvind Vasudevan, MD, and Atiya Khan, MD, of Morgantown, WVa. This X-linked recessive abnormality of the long arm of the X chromosome (Xq26) causes a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in the brain, liver, and red blood cells.1 In the United States, this condition may be as rare as 1 in 1.2 million.2 Because of the mode of transmission, this disorder affects males primarily; however, cases involving females have been reported.1 Partial variants of the syndrome involving decreased, but not entirely absent, levels of HGPRT also have been identified.2

Day-Old Boy With Respiratory Distress After Complicated Delivery

April 02, 2006

Day-old boy born at term via vaginal delivery complicated by shoulder dystocia. He had very mild cyanosis in the extremities at birth, which resolved after 5 minutes. Referred for evaluation of respiratory distress. Birth weight, 3.3 kg (7.4 lb). Apgar scores: 7 at 1 minute, and 9 at 5 minutes.