Background: Mucopolysaccharidosis (MPS) is a group of rare metabolic genetic disorders. Although individually rare, this group of disorders has been notably reported to be amongst the commonest metabolic causes of mental retardation in India. MPS group of disorders is well-known to one diagnosed late; partly because of its multifarious presentations which mimic with other with commoner conditions. Treatment options are now available for various MPSs, thus putting the onus of early diagnosis on the treating physician. This blog is an ode to the master-of-guises, mucopolysaccharidosis!
Ode to Mucopolysaccharidosis
Today we wish to spread the word about the ‘master of guises’,
Early hernia surgery, stiff joints without pain and developmental delay,
Could it be MPS 1?
Think of MPS 2 if you find a matching phenotype,
But a pedigree of only affected sons!
No coarseness, no organs on palpation, but treated for ADHD; I scratch my head, could this be MPS 3?
MPS 4 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 features of many MPSs; but do keep in mind MPS 6,
Facial coarseness in the neonatal period, is it I-cell disease or is it MPS7?
Oh! What a clinical fix!
Don’t stop at the GAG report, do the mutation profile,
Only then can you offer prenatal counselling in a confident style!
Think of them early, think of them quick,
Is it really fair,
Treatment options are available and yet, these children remain sick?
This poem had first appeared online on https://www.pediatriconcall.com/blogs/view/mucopolysaccharidosis/5, on 17 May 2018.