MRCP revision battle 10.6: Lesch-Nyhan Syndrome

Lesch-Nyhan Syndrome is a rare inherited x-linked disorder caused by an abnormality of an enzyme involved in purine metabolism resulting in increased uric acid.  Only boys tend to be affected.


Features of Lesch-Nyhan Syndrome include:

• orange crystals in nappies
• low IQ
• self-mutilation
• fits
• recurrent gout (probably the most important relationship to remember in MRCP)
• megaloblastic anaemia

Patients usually die by the age of 25, often of renal failure.


So to the final battle of the day, a nice gentle ending with a breeze through the causes of low-voltage complexes on ECG