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Suggest treatment for cerebellar degeneration and neuronal ceroid lipofuscinoses

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Posted on Sat, 16 May 2015
Question: Hello Doctor, our child is diagnosed with Cerebellar degeneration and Neuronal Ceriod Lipofuscinosis. Kinldy help.
doctor
Answered by Dr. Olsi Taka (1 hour later)
Brief Answer:
Progressive disease

Detailed Answer:
I read your question carefully and I am sorry about what you and your family are experiencing.

Neuronal ceroid lipofuscinosis is a genetic disease. There are several types all metabolic errors which lead to deposition of an abnormal substance in the nerve cells leading to the cell's death. There are several forms manifesting at different stages of the patient's life, it seems your child has the earliest infantile form, the tests he's having might categorize the precise form.

Unfortunately this is a progressive disease leading to progressive cerebral degeneration and loss of brain functions and seizures ultimately shortening the lifespan, reaching only the second decade of life.
Modern medicine doesn't offer any treatment regrettably, only anticonvulsant for seizures and anti oxidants such as Vitamin E and selenium with little success.
Stem cell therapy is being studied but for the moment is still under study.

I remain at your disposal for further questions.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Follow up: Dr. Olsi Taka (12 hours later)
Helli Doctor, thanks for your reply. I understand that there are various types of Ncl, can you please advise on how to diagose further on our child. Thanks.

Hello Doctor, we have one more child elder to the affected child. She is 8 years old and so far she is doing good, but she is ver short compared to other kids of her age. Is there any chance she might be genetically affected as well? What tests can we do to confirm she is healthy?
doctor
Answered by Dr. Olsi Taka (6 hours later)
Brief Answer:
Read below

Detailed Answer:
The diagnosis can be made by several tests. Enzyme essays which are the easiest essays measure the level of the deficient enzymes in white blood cells or other cell samples.
Skin or tissue samples when in doubt can also be studied under electronic microscope to look for characteristic changes due to the deposited substance..
Genetic DNA testing also can identify the responsible gene for each type.

As for your other doctor, since your child is only 1 year it's obviously an infantile or late infantile form which would have manifested by now in your 8 year old daughter. Other forms are due to different genetic mutations so can't be your daughter's case either. So no reason to think she has NCL.

Regarding future children you might have though, they do carry a 25% chance of having the disease. It is an autosomal recessive disease, meaning both you and your wife carry a silent gene, and there is a 25% chance of your children getting two silent genes (one from each of you) and developing the disease.

I hope to have been of help.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Olsi Taka (21 hours later)
Hello Doctor, the mri report shows two remarks, 1.Cerebellar degeneration 2. NCL.

Is these two conditions relate to one disease or it is two disease?
doctor
Answered by Dr. Olsi Taka (3 hours later)
Brief Answer:
Read below.

Detailed Answer:
The suggested diagnosis is only one and that is NCL.
Cerebellar degeneration is just a medical term for describing shrinking of the cerebellum (the small brain). So it's not a name of a disease it's a sign of it, in this case it's a sign of NCL.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Dr. Olsi Taka

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Practicing since :2004

Answered : 3671 Questions

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Suggest treatment for cerebellar degeneration and neuronal ceroid lipofuscinoses

Brief Answer: Progressive disease Detailed Answer: I read your question carefully and I am sorry about what you and your family are experiencing. Neuronal ceroid lipofuscinosis is a genetic disease. There are several types all metabolic errors which lead to deposition of an abnormal substance in the nerve cells leading to the cell's death. There are several forms manifesting at different stages of the patient's life, it seems your child has the earliest infantile form, the tests he's having might categorize the precise form. Unfortunately this is a progressive disease leading to progressive cerebral degeneration and loss of brain functions and seizures ultimately shortening the lifespan, reaching only the second decade of life. Modern medicine doesn't offer any treatment regrettably, only anticonvulsant for seizures and anti oxidants such as Vitamin E and selenium with little success. Stem cell therapy is being studied but for the moment is still under study. I remain at your disposal for further questions.