Son has had severe GI problems since birth. Would choke on own vomit and turn purple/blue. Longest time was 1-2 minutes in the hospital on day 2. Dx with severe milk protein allergy, GERD, acid reflux, delayed gastric emptying. Problem solved with feeding tube formula by mouth. Chronic constipation. Never hard, just won't go without Mira-lax everyday. He will get so backed up, he will vomit everything he eats until he goes. At 7 months started having "episodes" that look like infantile spasms (some look like facial tics, some have eyes roll back in head). These last 3-5 seconds, but happen multiple times. Then he had an absence seizure about 1 minute long. Finally got referred to Pediatric Neurology. Said he was floppy (hypotonia. sat for 1st time at 11 months), has trouble swallowing any solids, regardless of size (dysphagia), large head (macrocephaly). Sent for EEG and Brain MRI. EEG came out normal. MRI didn't. MRI should mildly enlarged ventricles and slow cerebral spinal fluid resorption. Didn't give reason for apparent atrophy. I saw the MRI. The atrophy is easy to see on each side of his head, about the half way position of the ears, on up and a small amount on the left forehead. From my research it appears to be where the motor cortex is. I asked the neuro is he thought it would get worse, and he said he didn't think so. Which lends me to believe that he feels it was caused by a one time event. Is a choking incident of 1-2 minutes long enough to cause it? He has been screened for lactic acid, and ammonia, and thyroid, all normal. Waiting tests for micro deletions on DNA. He don't have any facial characteristics typical of the trisomy defects.
He won't put weight on legs. Awaiting a MRI looking for tethered cord.
Born at 39 weeks, weighing 9 lbs.
Neuro said he had hydrocephalus, but MRI report said he doesn't. Neuro surgeon said the extra fluid is from the atrophy of the brain. She said there is increased space between the brain and skull where the atrophy is. Does this need to be drained? I don't need my son getting worse on something I could fix. No blockages seen on MRI.
Is this Cerebral Palsy? He is behind in fine motor movements about 3 months, and 4 months behind in gross. Babbles a lot more, and seems to interact fine with you. Is terrified of water and seems startled/afraid of falling when being changed on a changing station. Seems to have a very high palate. Sometimes shakes for no reason, especially in the morning of after naps. Gets very excited and flaps his hands a lot. Other than that, a very happy baby.
I do have MTHFR. Vitamin B12 deficiency is common with that. I also read that B12 deficiency can be linked with brain atrophy. I asked his pediatrician about that he she laughed at me. Didn't know what I was talking about. She says that he's floppy because he is a large baby, 26 lbs at 12 months. The MRI doesn't lie. I'm battling doctors who ignore my concerns. Not much info to be found about this and babies.
Sorry for the length. I'm not getting much in answers from doctors.
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