Lesch-Nyhan syndrome in Adult
Phenotype is largely dependent on degree of enzyme deficiency; those most affected have the classic triad of dystonia, spasticity, and self-injurious behavior. Self-mutilating behavior, particularly biting, is distinctive; fingers and lips are common targets. Renal complications develop first, within the first several months of life. Cutaneous findings can mimic gout, with painful inflammation of joints and multiple tophi. Poor muscle control and developmental delay can be noticed in the first year of life. During the second year, self-mutilating behavior including lip and finger biting can be noticed.
E79.1 – Lesch-Nyhan syndrome
10406007 – Lesch-Nyhan syndrome
Differential Diagnosis & Pitfalls