5a. Diagnosis


Following the establishment of the diagnosis and confirmation with genetic testing, what is the diagnostic approach for management and treatment?  The pediatrician will have to survey all the organs, knowing that a lot of organs can be affected when you have a child with lysosomal storage disease. Radiological examination, looking for the dysostosis, the bone involvement. Ophthalmologic examination, biochemical studies if not done before.  The blood smear looking for the vacuolization. Other biochemical testing can also be done that do not look at the enzyme activity but at byproducts of these pathways.  That can be done in the blood and the urine. They might consider a bone marrow biopsy in cases where all of these tests can be undetermined, and then molecular and genetic testing. Then depending on the specific disease, they can order an MRI, a CAT scan of the head, they can order an MRI of the bone, they can order an MRI to measure the organ volume, the liver and the spleen, depending on what the disease is.





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