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Ask Dr. Y. Vasavada Your Own Question
Dr. Y. Vasavada
Dr. Y. Vasavada, Pediatrician
Category: Paediatrics
Satisfied Customers: 3268
Experience:  M.D.(ped) passed at first attempt, in practice continuously for last 37 years. Certi. in Comp
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Dear Dr, My son is 4 yrs old and had infantile spams from

Customer Question

Dear Dr,
My son is 4 yrs old and had infantile spams from age 2 months to 6months. The spams were treated with Prednisolone.
At 4 yrs, he has a developmental age of 0-12mnths. He cannot see, talk or walk.
He bites himself a lot, hits the right side of his head a lot and still mouths everything.
We have undergone a series of tests including MRI's, EEG's opthamologists, metabolic and genetic. So far, all but the genetic have come back with negative results. The genetic testing takes a while.
The summary of the EEG is that he has irregular activities in his brain
The MRI revealed that he has atrophy and the carpus callusum is thinner than expected
Metabolic has said he has high copper levels which has normalised over the last 2 yrs
ophthalmologist have said that the optic nerve is pale in colour suggesting that blood does not get to that part of his brain.
Do you have any suggestions for investigation? We have been discharged by all but the genetics team now.
Thank you
Catherine
Submitted: 3 years ago.
Category: Paediatrics
Expert:  Dr. Y. Vasavada replied 3 years ago.

Dr. Yogindra Vasavada :

Hello, Sorry he has these problems. You have not mentioned his head size and bodily growth.

Dr. Yogindra Vasavada :

The geneticist may be able to give a firm diagnosis. He could be having cerebral palsy with profound mental retardation.

Dr. Yogindra Vasavada :

Acquired CP may be related to difficult labor or other insult during or soon after birth.

Dr. Yogindra Vasavada :

In very limited genetic conditions some form of palliative treatment may be possible.