spot diagnosis
>>> Q.
Spot diagnosis
|
|
Answer : Corneal
clouding suggestive of Mucopolysaccharidosis {MPS}. The mucopolysaccharidoses
{MPS} are a group of inherited lysosomal storage disorders that are caused by
a deficiency of specific lysosomal enzymes required for the degradation of
glycosaminoglycans {GAGs} {mucopolysaccharides}. Typical features include
hepatosplenomegaly, coarse features, corneal clouding and skeletal
dysostosis. No treatment is available for the underlying disorder, and care
must be supportive.
look pediatric clinical test by dr amlashour;
|
0 comments: