What Does This MRI Finding Indicate?

Posted on Mon, 14 Sep 2015

Question: These are my sons findings from his MRI can you please give meaning to them. HE is suspected mito child but noone will tell us which one they think it is.

HIS MRI of Brain T2 Hyperintenisty wo T1 contrast enhancement in the posterior andtemporal deep white matter with anaglogos albeit more subtle changes in frontal lobe deep white matter, also relative sparring of white matter of the subcortical fibers. There is T2 hyperintenisity seen in globus pallidus bilatterally. Mild parenchylymal volume loss is also present.

Impression Abnormal Brain with and appearance of progressive metabolic leukoencphalpathy/ leukodystrophy

Please make sense of this for us we would like a prognosis

Answered by Dr. Olsi Taka (1 hour later)

Brief Answer:
Prognosis not good.

Detailed Answer:
I read your question carefully and I understand your concern.

That report describes diffuse changes of the white matter in your son's brain. I assume they have been noted on previous imaging exams as well. The conclusion speaks in favor of leukodystrophy or metabolic leukoencephalopathy.

Now the terms leukodystrophy or leukoencephalopathy indicate damage to the white matter. They are very broad terms in the sense that they include many different rare diseases. These are all born conditions, some of them inherited, which lead to defects in one substance/enzyme or the other.
Genetic testing might make classification into a particular subtype possible, but the end result of all subtypes is the same though, defective myelin (the substance which protects nerve sheaths) formation, inflammatory reactions with the end result being damage to nerve fibers which compose the white matter.

Regarding the prognosis, unfortunately there is not a medication for any of these conditions, them being born errors of metabolism. There is research on stem cell transplants or gene therapy but their it's still an ongoing research yet to be proven effective. So the prognosis is not good, there will be a progressive deterioration of neurological functions with a limited lifespan. There are infantile, juvenile or adult forms, I guess your son's is an infantile one so the life expectancy is short.

Of course this info should be discussed with the treating doctors, how confident they are about this being the diagnosis based on evolution of symptoms and imaging in time, I am speaking based only on what is suggested by the MRI report. I am sorry if I wasn't able to give any good news.

I remain at your disposal for other questions.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Olsi Taka (8 hours later)

Thank you for your answer and although hard to hear it was the most honest answer we have received. I would like to share his other symptoms with you to see if you have any insight. He is almost 18months old FTT , Gtube fed due to hypotonia of all muscles but mainly core muscles with muscles contractors. He also has periods of cyanosis, seizures. He can sleep almost 17 hrs out of the day. He does not walk, talk but before the last 3 weeks he was standing and cruising on furniture and could say mommy and daddy but no longer and lately my lap is the only place he finds comfort. He has borderline and changing kidney and liver enzymes.Last week his Alkaline Phosphate was over 500 but has now normalized and his kidneys put out 6 times the amount of phosphorus than they were supposed to that has also stabilized. His creatanin level is at .06 on the high end of normal. Most of his drs. feel he has a mitochondrial disease but will not tell us which one they think he has or the prognosis of his life span for which my husband and I desperately need to know. We are waiting for insurance to approve a muscle biopsy and genetic testing. Thank you for any insight you may provide.

Answered by Dr. Olsi Taka (3 hours later)

Brief Answer:
Read below.

Detailed Answer:
Thank you for that additional info.

The description unfortunately is compatible with the MRI findings. Metabolic leukoencephalopathies can be related to many different mutations, and more new mutations are found everyday, so genetic testing may put a more precise name your son's individual case. I am not so sure about mitocondrial disorders, at least doesn't look like the more common ones, but there are rare mutations. I'd sway more towards a lysosomal storage disorder like metachromatic leukodystrophy.

But I doubt as a parent you care so much about the mutation site, from a practical point of view as I said there is no real cure for these metabolism disorders. Genetic testing may allow a more precise prediction to be made, but generally speaking the earlier and more severe the manifestations the less the lifespan, ranging from 2-8 years from onset.

I can only imagine how difficult it must be for a parent, I hope you and your family will find the necessary strength during this difficult period.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar