Friday, March 26, 2010


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?

Image shown under Fair Use.


tree said...

Lesch-Nyhan syndrome, deficiency of HGPRT, x-linked recessive

Eric said...

Lesch Nyhan Syndrome! X linked recessive

MaxW said...

Lesch-Nyhan Syndrome
X-linked inherited disease
Mutation in hypoxanthine guanine phosphorybosyltransferase

Alex said...

lesch-nyhan? i actually saw a cornelia de lange syndrome last mth

Craig Chen said...

wow! you guys are awesome! and you spelled it correctly too :)

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;