The world is a very strange place, filled with many strange disorders and diseases, but the strangest of them all is Lesch-Nyhan Syndrome. This rare genetic disorder mostly affects males and is characterized by a variety of symptoms, which include “self-mutilation, hyperuricemia, choreoathetosis, and mental retardation.” (Wilson and Roy 1)
The first documented case of Lesch-Nyhan Syndrome was in 1962, when a mother brought in her son (who was diagnosed with cerebral palsy), because he was experiencing painful urination and had a gritty like deposit in his diaper. The resident who examined the boy, along with his intern tested the deposit found in patient and determined that it was the consequence of an overproduction of uric acid, which is a waste product that the kidneys typically expel. The strange thing about this was that the overproduction of uric acid is mostly found in older men with goat, not little kids. So to get a second opinion, the resident told Dr. William L. Nyhan, along with Dr. Nyhan’s medical student, Micheal Lesch to examine the patient and what they found was way more complicated than cerebral palsy. …show more content…
Subsequently, increased muscle stiffness and decreased joint range of motion” (Journal of Orthopedic Research 1)), but something, much more serious. The doctors examined his symptoms closer. They first check for gout, because his test showed an abnormal amount of uric acid, which cause goat; but they doctors did not find any. They continued to assess his symptoms and realized that he had a disorder known as choreoathetosis (“abnormal movements of body of combines choreic and athetiod pattern”); the boy also had dysarthria (“imperfect articulation of speech due to disturbances of muscular control resulting from central or peripheral nervous system
The first documented case of Lesch-Nyhan Syndrome was in 1962, when a mother brought in her son (who was diagnosed with cerebral palsy), because he was experiencing painful urination and had a gritty like deposit in his diaper. The resident who examined the boy, along with his intern tested the deposit found in patient and determined that it was the consequence of an overproduction of uric acid, which is a waste product that the kidneys typically expel. The strange thing about this was that the overproduction of uric acid is mostly found in older men with goat, not little kids. So to get a second opinion, the resident told Dr. William L. Nyhan, along with Dr. Nyhan’s medical student, Micheal Lesch to examine the patient and what they found was way more complicated than cerebral palsy. …show more content…
Subsequently, increased muscle stiffness and decreased joint range of motion” (Journal of Orthopedic Research 1)), but something, much more serious. The doctors examined his symptoms closer. They first check for gout, because his test showed an abnormal amount of uric acid, which cause goat; but they doctors did not find any. They continued to assess his symptoms and realized that he had a disorder known as choreoathetosis (“abnormal movements of body of combines choreic and athetiod pattern”); the boy also had dysarthria (“imperfect articulation of speech due to disturbances of muscular control resulting from central or peripheral nervous system