Posted by
Shruti Bajaj
On date
17 May, 2018
15 May 2018
- #WorldMucopolysaccharidosisDay#
Today we wish to spread the word about the master of guises,
#Mucopolysachharidosis#
Early hernia surgery, stiff joints without pain and developmental delay
Could it be MPS1?
Think of MPS2 if you find a matching phenotyic pedigree of only affected sons.
No coarseness, no organs on palapation, but treated for ADHD; I scratch my head...could it be MPS3?
MPS4 should be on your radar, if you see a rachitic child not getting okay with Vitamin D (not to forget the platyspondyly)
Clouded cornea, skeletal dysostosis, short in height: could be a feature of many MPSs; keep in mind MPS6
Facial coarseness in the neonatal period, is it I cell disease or is it MPS7?
Oh a clinical fix!
Don't stop at the GAG report, do the mutation profile
Only then can you offer prenatal counseling in a confident style!
Think of them early, think of them quick
Is it really fair
That
Treatment options are available, and these kids still remain sick?
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