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4 year child not able to walk or stand. MRI showed diffuse cerebellar atrophy. What is the cause and is there any solution?

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Neurologist
Practicing since : 2001
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Hello,
This is regarding my SON who is now 4 years of age. & weight is 19 KG.
He cannot walk and stand at all and his speech is also not good as per his Age.
He never tells for Urine & Stool also, He released without informing OR telling anybody.
Initially he started walking & standing properly with rare falling (1%) from Age of 1 year to 2.5 Years.
Since last 1.5 years there are lot regressions in his walking & standing capacity.
There are no changes OR regressions in his speech & its consistent even not much improved.
There are lots of medical examinations done by “Sir Ganaga XXXXXXX Hospitals-New Delhi” & “All India Institute of Medical Sciences (AIIMS) New Delhi”.
Recently doctors diagnosed “one problem” in latest MRI (Apr.2012) "Diffuse Cerebellar Atrophy" and also doctors suspecting "Axonal Neuropathy", not yet to complete their diagnosis.
Tests like “IsoElectroFocussing of Serum Sialotransferrins” - CDG, Vitamin B12 Level (Level – 300 normal range 200 to 900), TMS, GCMS are Normal.
Recently he has been given 4 doses (1000 Mcg) of VitaminB12 Injections also BUT no results OR Improvements at all.

I am completely disappointed with his situation now and turning towards lot of negative thoughts also.

Is there any one in this world of genius doctors and specialists who can help and suggest something for my son.
What is this problem?
How can we help him to stand at least OR in Urine/stool?
What is the root cause of “Diffuse Cerebellar Atrophy" ??
Are there any solution OR can we help to prevent this problem etc ??.

Below are the list of Medical Examinations already done and most of all are normal.
05.03.2012_Blood_Biotinidays
05.03.2012_Blood_NH3_Test
06.03.2012_Urine_GCMS
06.04.2012_Blood_Test_CDG_IsoElectrocfocusing
06.04.2012_BLOOD_Vitamin_B12
06.04.2012_MRI_Brain
09.11.2011_Blood_Tandem_Mass_Spectrometry_Test_Report
11.02.2011_MRI-Brain-Report
14.02.2011_CPK-SERUM-Blood-Report
17.07.2011_Blood_HemoGram_Reports
17.07.2011_Blood_Report_TSH_FT3_FT4
17.07.2011_Blood_Reports_Vitamin_B12
17.07.2011_CPK-SERUM_Blood_Report_17.07.2011
17.10.2011_MRI-Cervical-Spine
18.10.2011_Doctor_Genetic_Hospital_History_Recorded
18.10.2011_Eyes-Genetic-Fundus-Test-Report
18.10.2011_Nerve_Conduction_Study_SGRH
19.01.2012_AIIMS_ Nerve_Conduction_Study _Test
15.04.2012_AIIMS_ Nerve_Conduction_Study _Test
20.10.2011_Blood_Report_Genetic_Lab_Krabbe_Disease
20.12.2011_Blood_Test_ADRENOCORTICOTROPIC HORMONE
20.12.2011_Blood_Test_CORTISOL_SERUM
20.12.2011_Blood_Test_CPK_SERUM
20.12.2011_Blood_Test_HIV_Screening
20.12.2011_Blood_Test_HTLV_I_II_Antibodies
21.10.2011_Blood_Genetics_Lab_Report_Leukocytes_Aryl_Sulfatase
22.10.2011_Blood_Test_Assay_For_Leukocytes_Aryl_Sulfatase_A
23.01.2012_MRI_LUMBOSCRAL_SPINE

Thanks a lot for all your help and support.

Best Regards
Pawan XXXXXXX
Posted Tue, 31 Jul 2012 in Brain and Spine
 
 
Answered by Dr. Shiva Kumar R 49 minutes later
Hello

Thanks for the query

From the details provided to me I feel child is probably suffering from progressive neurological disease in view of regression of mile stones, speech arrest, diffuse cerebral atrophy and associated axonal peripheral neuropathy. However it difficult for me to give name to the syndrome/disease at this point of time based on the available investigations. At times the diagnosis is evident only in the later stages when the disease evolves in to is full form.

So I personally feel the child was investigated extensively for the cause of the disease and no etiology has been identified so far. That means treatable causes for syndrome have been excluded. I am interested to know if Vit E levels were done to exclude the possibility of Vit E deficiency in the child, though complete clinical picture does not fit in.

My recommendation for you is to keep in touch with Pediatric Neurologist for follow up and for symptomatic management. Toilet training along with other measures like absorbent pads would be ideal in your child at this point of time. Multivitamins along with Vit E supplements would be of benefit and may possibly delay the progression of the disease.

I thank you again for submitting your question. I hope you find my response to be both helpful and adequate.

If you have any additional concerns regarding your question I would be happy to address them.

Sincerely,

Dr Shiva Kumar R
Consultant Neurologist & Epileptologist.
Above answer was peer-reviewed by
 
Follow-up: 4 year child not able to walk or stand. MRI showed diffuse cerebellar atrophy. What is the cause and is there any solution? 25 minutes later
Hello Doctor, Thanks for your reply.
We were consulting in AIIMS Neuro Pedetrics doctors but finally I am not sure further they have anything to investigate as they have done all kind of medical exams (MRI, blood tests, NCS, Muscle, Nerve Biopsy) and not able to conclude anything. So not very optimistic from that side.

Now I have to help him at least he can do something batter and can improve little bit.
(1) First of all, what could be the possible solution for Urine & Toilet controll as he can not control since the birth.
(2) What is solution for Diffuse Cereberall atrophy?
(3) after going through all his medical reports, what do you suggest for his improvements.
(4) Also we can see that his back side of head looks little bit whiter than other parts of head, what is this ??
(5) What do you suggest us further on this and solution ??
(6) What could be the reason that no results after giving 7 doses of Vitamin B12 as its recomanded for Brain Atrophy ?
(7) Are these problems can happen becouse of Brain Atrophy OR there are any other reasons ?

Thanks for your help and support as I am completly frustrated & not very optimistic as I can not help me in his this situation.

Thanks
Best rgds

 
 
Answered by Dr. Shiva Kumar R 54 minutes later
Hello

Thanks for the query

As I mentioned to you earlier, absorbent pads and training for the toilet is the only option or solution for the incontinence. As we all know cerebral atrophy is irreversible we can only try to prevent further brain cell loss by using multivitamins and Vit B12. However these does not reverse the atrophy which has already happened. Hence you have not noticed any significant improvement even after administering B12 injections.

I am not sure about the reason for the white patch on the back of the head. If it is possible do send me a photography of the back of the head for visual impression and conclusion. As the required blood tests were already done in the past and has not revealed any abnormalities, I feel there is no need for any more tests in the child at this point of time.

I thank you again for submitting your question. I hope you find my response to be both helpful and adequate.

If you have any additional concerns regarding your question I would be happy to address them.

Sincerely,

Dr Shiva Kumar R
Consultant Neurologist & Epileptologist.
Above answer was peer-reviewed by
 
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