Hurler's Syndrome (Mucopolysaccharidosis Type I) - Anyone had a patient with this?

[Lawnurse]

Has anyone seen a patient (child) with Hurler's syndrome? I am doing a presentation on a case that involves a child who had a late -allegedly- diagnosis of this disease.

If anyone has had a patient with this disease, I would be very interested to know how the child presented.

Many thanks,

Lawnurse

[BittyBabyGrower, MSN, RN]

I've seen 2 in my 19 years as a NICU nurse...they are usually FLK, and they do look kind of like a gargoyle, like the literature says. They also usually have spine problems, like a scoliosis or kyphosis, and are usually pretty hairy for a full termer. The two I had worked with also had cataracts, which is usually indicitive of some sort of genetic problem. We have an excellent genetics department where I work,so they did the FISH and sent out chromosomes on these kids. There isn't much they can do for them, but stem cell transplant has shown some success with the neuro problems. I guess there is the chance that the kid only looked mildly off and things weren't picked up, but they do have a distinct look to them. I believe that the neuro problems start to show up around 2, but don't quote me on that!

[Lawnurse]

Thanks, BabyGrower! :)