E. Jasinge

Diagnostic and Therapeutic Challenges in Lesch–Nyhan Syndrome: A Case Report of a Sri Lankan Child Presenting with Self-Mutilation and Hyperuricaemia

Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive disorder caused by hypoxanthine-guanine phosphoribosyl transferase deficiency, resulting in hyperuricaemia, neurological dysfunction, and self-mutilation. We report a 3-year-10-month-old Sri Lankan boy who initially presented in infancy with irritability, excessiv...