Monday, 13 September 2010

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