Looking for a better understanding.

[steph9803]

My 11 week old had an MRI and these are the results..Can someone tell me what it means in lay terms. I know about the delayed myelination, but I don't know what the other findings mean. I would be very appreciative..we are now 6 weeks past this and have no diagnosis and I'm trying to get a better understanding of his medical records.

FINDINGS:
BRAIN:
There is a mild symmetric CSF intensity prominence of the extra-axial spaces throughout the supratentorial and infratentorial brain. Ventricles are within normal limits, though are upper limits of normal. There multiple foci of high T2 signal within the subcortical white matter bilatererally with more linear foci of the high T2 signal seen predominantly within the parietal occipital white matter symmetrically. Myelination is closest to that of a 3 week old.
There is no diffusion restriction abnormality to indicate acute infarct. The corpus collosum is normal. There is no Chiari malformation.

CERVICAL SPINE:
The spinal alignment is normal. Signal abnormalitiy within the discs and vertebra are normal. No focal malalignment. The cord signal is normal throughout. There is no extrinsic or intrinsice mass effect. Note is made of the dependent bilateral lung opacities. The cardiomediastinal strucctures are not completely imaged and exam is not optimized for their evaluation though there is a suggestion of enlargement of the main pulmonary artery.

IMPRESSION:
1.  Signal abnormalities within the white matter with delayed myelination. Primary considerations are primary hypomyelination syndromes. Demyelinating disorders (including mucopolysaccharidoses) are possible, but may be less likely given age. Continued evaluation may clarity etiology.
2.   Suggestion of main pulmonary arterial enlargement, though exam is not optimized for evaluation of the cardiomediastinal structures. Correlation with clinical findings will likely determine any further evaluation.

[Christopher R Newey, DO]

Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with a doctor.

Without the ability to examine and obtain a history, I can not tell you what the exact cause of the symptoms is. It is also difficult to comment on MRI’s without the ability to examine myself. However I will try to provide you with some useful information.

My first question is why did your baby have a brain MRI? Depending on the age of the child, there may be white matter changes seen on MRI, as mentioned. This is secondary to the development of the brain. However, there are many diseases that can cause abnormal white matter changes on MRI. These may include inborn errors of metabolism (i.e., disorders in how the body breaks down products such as carbohydrates, sugars, etc) and demyelination (i.e., disorder in how the body insulates the nerves to allow for adequate signaling) to name a few. It is possible to have a normal developing child and later begin noticing changes. It is difficult to comment more.

I recommend that you continue working with your physician. Is your child being followed by a pediatric neurologist? If not, I would recommend this. You may need to have your child’s urine sent for organic acids and serum sent for amino acids. You may also need to have a lactate and pyruvate level sent. Altogether these would be a starting point for workup of metabolic disorders.

Thank you for this opportunity to answer your questions, I hope you find the information I have provided useful, good luck.

[steph9803]

There's another piece to my son's puzzle now..he's having extended periods of time where his temp is staying between 96 and 97 degrees. I'm still hoping to find someone who might have had experience with this or anything like it..

[steph9803]

Thank you so much for a response. He was 11 weeks at the time of the MRI and is now 19 weeks. He had several ALTE's and during the last hospitalization the dr's finally saw what I was seeing and knew something was off. He had severe hypotonia, which with therapy has greatly improved. He went from functioning as a 3 week old at 12 weeks to now being almost on target. He also has swallow dysfunction, reflux, ASD, atelectasis, and a first cousin with the same problems. My sister's son is now 16 months old with the myelin developed to that of a 9 month old. The major difference is that my nephew's MRI shows that he has microcephaly. My son is seeing a pediatric geneticist, neurologist, GI, cardiologist, pulmonologist, and opthomalogist. They are now sending them both to Dr. Reimschisel who is a pediatric neurogeneticist. As they have all said "the more brains on this the better" I'm hoping to find that one person who knows what this might be.
Gavin's had an extensive work up..this is a section of the transcription from his geneticist:
Microarray analysis done at Signature Genomics did not reveal any abnormalities in the regions studied. Plasma amino acids, acylcarnitine profile, urine organic acids were all nondiagnostic. Very long chain fatty acids were done at Kennedy-Krieger Instutute were normal. Lysosomal enzyme analysis sent to Dr. Wenger's laboratory ruled out GMI gangliosidosis, beta-mannosidosis, fucosidosis, Tay-Sachs, metachromatic leukodystrophy, and Krabbe disease. N-acetylaspartic acid level was normal. This is a screen for Canavan disease. Testing of the PHOX2B gene associated with congenital central hypoventilation syndrome did not reveal an increased number of polyalanine repeats. The microarray analysis will detect Pelizaeus-Merzbacher disease with 50 to 60% cetrainty by array and this was not seen. We did not do sequencing of that gene.

7 weeks ago during his last extended stay at the hospital after we received the results of his MRI and with the condition he was in most of the doctor's were pretty sure it was going to be something devestating if not fatal. Now every single dr that has seen him since is blown away by his progress. The geneticist said she's far more optomistic than wee was then.

Would you have any other suggestions as to what to look for? I spend hours and hours researching and am always looking for suggestions.