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one year old girl/undiagnosed seizures for 11 mos./MRI shows brain deterioration

one year old girl/undiagnosed seizures for 11 mos./MRI shows brain deterioration


  We are making necessary arrangements to come to the clinic. Arkansas Children's now suspects this may be "mitochondria". We are told a Dr. Cowen in neurometabolic specialty there can help. Please provide any/all information and guidance on our message subject. We are desperate to secure help for our grandchild. Thank you!  
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First of all let me help you with the appointment The Dr who specializes
in mitochondrial disorders is Dr Buce Cohen, he is a pediatric neurologist
here at the clinic and specializes in mitochondrial disorders.
These are really to complex to give you a full picture by this means,
briefly they involve a genetic defect of genetic material which
is located in the mitochondria small organs within cells which break down
sugars and fats to produce energy.
Defects in this process have only been recognized very recently but the
can cause a wide range of neurologival problems including seizures, the spacific
problem depends on what part of the mitochondrial DNA is damaged.
Since the disease revolves around problems in the breakdown of energy the
treatment may involve dietary manipulation and supplements, it is very important to
wait for the specific defect to be identified before trying any dietary
manipulations as different treatments are required for different problems.
Diagnostic testing involves testing of blood, urine sometines CSF and
frequently muscle biopsy.




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