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Does my child have mucopolysaccharidosis?

Q: My son aged 2 years 11 months old is suffering from Mucopolysaccharides storage disorder, as per MRI of brain and doctors diagnosis. Last 3 months ago his development was slowly deteriorated. He stopped talking, playing and he stopped responding to all people including his mother. He goes to the school but there also he does not talk or reciprocate to anything. He cries sometime but otherwise he is totally quiet. His EEG report showing abnormal graph. His blood report including CT, blood sugar, etc, report showing normal. The next suggestion doctor has given is to do enzyme analysis. My doctor suggested following 3 types of medicine - Encorate, Mentat, Lobazam 5. Please suggest what to do as I am very worried.

A:It is difficult to confirm / refute the diagnosis of mucopolysaccharidosis(MPS). Children with these disorders have poor physical growth, typical facial features and joint abnormalities. The diagnosis is suggested by X-rays. Generally MRI and EEG do not contribute towards making a diagnosis. A specific test of urine is also used as a screening test. Specific diagnosis requires enzyme testing. The drugs that you have been prescribed are meant for convulsions which are not a usual feature of MPS. At the same time it is important that your child is evaluated properly and a diagnosis made so that proper management plan be made. Also some of these disorders can be hereditary. So, probability of recurrence in subsequent children also has to be seen. I suggest your child be evaluated in detail at a bigger centre such as a Medical College.


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