This is a 3 year old boy with a history of nephrolithiasis who bites himself; his lower lip is mutilated and he has a wound on the dorsum of his hand. His tongue is spared. He has uncontrolled motor movements with action dystonia and baseline hypotonia. He also has delayed developmental milestones and mental retardation. Labs show a macrocytic anemia.Challenge: What is this disorder? How is it inherited?
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Lesch Nyhan Syndrome! X linked recessive
Lesch-Nyhan Syndrome
X-linked inherited disease
Mutation in hypoxanthine guanine phosphorybosyltransferase
lesch-nyhan? i actually saw a cornelia de lange syndrome last mth
wow! you guys are awesome! and you spelled it correctly too :)
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Awful
This is Lesch-Nyhan syndrome, an X-linked deficiency of the purine salvage enzyme pathway. This defect in hypoxanthine-guanine phosphoribosyltransferase (HPRT) leads to increased uric acid production.
Sources: UpToDate; www.dent.ucla.edu.
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