Discussion in 'Spot Diagnosis' started by J.P.C. Peper, May 12, 2012.
What's your diagnosis?
I'll post the correct answer in a couple of days!
Gargoylism - Hurler's syndrome
Yes, it’s Hurler’s syndrome, also known as gargoylism. It’s a lysosomial storage disease; there is an accumulation of sphingolipids, essential components of CNS membranes. Patients have a developmental delay and in the second 6 months of life the characteristic facies and frontal bossing begin to emerge.
Separate names with a comma.