Saturday, April 16, 2016

Rare case: Female Lesch Nyhan syndrome and the problem for aesthetic intervention



Should a plastic surgeon try aesthetic correction in Lesch Nyhan syndrome?


The young girl below attended one of our mission camps years ago. We had never see such a case before and did not know how to manage it. She had a history of self mutiliation and bizarre mental behaviour.  A red alert for the plastic surgeon in mission camps who may be tempted to surgically correct deformties in patients who self mutiliate.




*Medical explanation: Lesch Nyhan syndrome is a rare genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), produced by mutations in the HPRT gene located on the X chromosome. LNS affects about one in 380,000 live births.
The HGPRT deficiency causes a build-up of uric acid in all body fluids eading to gout.
 Neurological signs include poor muscle control and moderate intellectual disability. These complications usually appear in the first year of life. Beginning in the second year of life, a particularly striking feature of LNS is self-mutilating behaviors, characterized by lip and finger biting.
The etiology of the neurological abnormalities remains unknown. Because a lack of HGPRT causes the body to poorly utilize vitamin B12, some boys may develop megaloblastic anemia.[4]
LNS is an X-linked recessive disease; the gene mutation is usually carried by the mother and passed on to her son. LNS is present at birth in baby boys. Most, but not all, persons with this deficiency have severe mental and physical problems throughout life. There are a few rare cases in the world of affected females.
The symptoms caused by the buildup of uric acid (gout and renal symptoms) respond well to treatment with drugs such as allopurinol that reduce the levels of uric acid in the blood. 
The mental deficits and self-mutilating behavior do not respond well to treatment.
Self-injury (including biting and head banging) is the most common and distinctive behavioral problem in individuals with Lesch-Nyhan syndrome.

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