O.k., sorry. I know that I could have been more specific. My son is 1yr. He has been diagnosed with Loeys-Dietz Syndrome. His MRI showed delayed myelination of the nerves in his brain including his optic nerves. He was born with severe reflux,( has had a nissen.) He then was diagnosed wtih FTT. He has mild hearing loss, he was also born with a soft palatte cleft and a tethered lip. Which were both repaired today. He is catching up on his pyhsical growth. He is learning how to crawl. He still looks like he is maybe only 8-9months. His syndrome also caused a bicuspid aortic vavle. Our genetic dr. said that his face appears mildy neuropathic.He does have a developmental delay, with skills ranging from 3mo. to 10mo. of age. I guess wtih everything else we are dealing with I am having a hard time understanding the neurological part. For instance, does he have the motor and cognitive delay because of the syndrome and that is why his nerves are like that, or are his nerves like that because of the poor nutrition he exprienced in his first year? Also, does 'mildy neuropathic' mean it has something to do with his muscles? And what can I expect with other developmental milestones, walking, speech things like that? I know that his cleft problems will affect his speech, too. I just want to know the best way I can help him. Sorry, our app. with the neurologist is not until July. Thank you so much!!!
Hi
How old is your son? Does he have any delayed milestone development? In clinical studies conducted, it has been shoen that white matter myelination is an indicator of functional brain maturation. There is a chance of delayed acquisition of developmental motor and cognitive milestones incase of reduction in brain myelination. Your son is probably having a combination of demyelinating neuropathy. Neuropathy is the term for damage to nerves of the peripheral nervous system, which may be caused either by diseases of the nerve or from the side-effects of systemic illness. This can lead to the appearance of sensory symptoms like pain, tingling, pins, and needles, and motor disturbances like weakness, gait abnormalities, cramps etc. Neuropathy does not per se lead to a development delay. However, neuropathy along with demyelination may be present in certain disorders which are associated with development delays. Hence, please check with your neurologist about the appropriate diagnosis for these findings.
Best..