Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder. LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son. LNS is present at birth in baby boys. ...build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life. A striking feature of LNS is self-mutilating behaviors – characterized by lip and finger biting – that begin in the second year of life. Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington’s disease. More at NIH Website.
Below is a link to a vdeo clip done by nursing students. It is difficult to watch and has some spelling errors, but it shows the ravages of LNS. I just wanted to give warning. It is not required viewing.
Subscribe to:
Post Comments (Atom)
No comments:
Post a Comment