RT Book, Section A1 Bissonnette, Bruno A1 Luginbuehl, Igor A1 Engelhardt, Thomas SR Print(0) ID 1164076762 T1 Lesch-Nyhan Syndrome T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e YR 2019 FD 2019 PB McGraw-Hill Education PP New York, NY SN 9781259861789 LK accesspediatrics.mhmedical.com/content.aspx?aid=1164076762 RD 2024/10/03 AB It is a rare inborn error of purine metabolism that becomes apparent between the ages of 3 and 6 months. It is characterized by the presence of orange crystal-like deposits (“orange sand”) in the diapers of infants with the disorder. This is frequently the first symptom of Lesch-Nyhan Syndrome. Other clinical features include hematuria, urinary tract infections, arthritis, choreoathetosis manifested by raising and lowering of the shoulders, and facial grimacing. Hypotonia, hypertonia, hyperreflexia, and spasticity have been reported. Megaloblastic anemia, self-mutilating behavior, irritability screaming, uncontrolled aggressiveness, and compulsive actions complete the clinical presentation.