TY - CHAP M1 - Book, Section TI - Lesch-Nyhan Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e 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. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/08 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164076762 ER -