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MRI Focal area of increased signal intensity on DWI involving the cortico-spinal tracts. What does this suggest?

Nov 2013
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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 (consanguinity in family). There was an episode of febrile convulsion when she was 2 years old. Never encountered any such episodes post that till date. Periodical treatment of Shirodhara (An Ayurvedic Oil Treatment) over last 3 years seems to have helped considerably with her issues. Conclusion of the MRI brain scan recommended by neurologist recently 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"....After a few days the neurologist also asked for like blood tests, vitamin e test,sonography of abdomen and pelvic region are normal. The neurologist said that so far the case indicates 'leukodystrophies' but she couldnt confirm what type. She said that we may have to eventually put her through some more tests. One important point to be noted- Her state has considerably improved over time. She has less tremors now, slightly improved balance and now she can even dance by using complex steps. She still cannot jump with both foot in the air though. Also she is a little low on social confidence.Grateful for a detailed diagnosis of this case.Any help will be appreciated.
Posted Thu, 30 May 2013 in Brain and Spine
Answered by Dr. Sudhir Kumar 38 minutes later
Thank you for posting your query.

I appreciate the detailed description provided by you, and this helps us a lot in understanding her case well.
Based on the clinical features and MRI findings, your cousin seems to have a problem present since birth, whether it is metabolic or degenerative, has not been confirmed.
Though it is possible to come to a conclusion regarding the final diagnosis with some further tests (such as genetic testing, certain blood and urine tests, brain and nerve biopsy, etc); I am of the opinion that no further tests be carried out.
This is because the confirmation of diagnosis is only of academic interest, and would not make any change in the treatment.
Current medications are fine, along with physiotherapy and ayurvedic treatment. The fact that she is getting better is also a good news.

I hope it helps.
Please get back if you require any additional information.

Best wishes,

Dr Sudhir Kumar MD (Internal Medicine), DM (Neurology) XXXXXXX Consultant Neurologist
Apollo Hospitals, Hyderabad,
My personal URL on this website:
My email: YYYY@YYYY
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