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Child has had tremors in head,neck,hand and legs. Difficulty in balancing. Done with MRI. Suggest?

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My 14 year old cousin has had tremors in head,neck,hand and legs since childhood (when she was about 2 years old). She has a delay in speech, and speaks slowly as compared to her peers. She has balance issues and walks with a broad gait. Her parents are first cousins.Periodical treatment of Shirodhara (An Ayurvedic Oil Treatment) over 4 years had helped considerably with her issues. Conclusion of the MRI brain scan recommended by neurologist last week shows as follows- Focal area of increased signal intensity on DWI involving the cortico-spinal tracts.Bilateral symmetries. White matter hyperintensity in the forceps major region. In view of the imaging findings, the possibilities of metabolic disorder needs to be considered in differentials. Suggested possibility is mytochondrial leuko dystrophy. Suggested CSF evaluation/MRI spectrascopy for further evaluation. Please note that her previous MRI brain scan report taken at Age 3/4 showed no finding. Everything appeared to be normal. The neurologist has called us for a discussion next week, however I want to know as early as possible what this indicates. Please note that she has also called for a battery of other tests like blood tests, Vitamin E test,sonography etc. Reports of these are awaited. Any help/preliminary advice will be of great help.
Posted Mon, 20 May 2013 in Brain and Spine
Answered by Dr. Gopal Krishna Dash 1 hour later

Thanks for the query,

I understand your concern

I have noted your medical history

Let me tell you that her clinical and MRI data may point towards following possibilities
1. Genetic/metabolic disorder
2. Mitochondrial disorder
3. Hypoxic insult at birth
Without a detailed neurological examination it will be difficult for me to go beyond these in this case. She needs detailed neurological examination and only then the MRI findings can be correlated. Please note that these MRI changes also can be seen in so many neurological disorders.
Please consult a local pediatric neurologist and get re-evaluated. Treatment will depend upon the cause

Please get back to me in case you have any other concern
Best wishes

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