Health knowledge made personal
Join this community!
› Share page:

1 year old boy with strange skin symptoms and failure to thrive


Posted by abby318

My 13 month old son is developmentally delayed (something I have been taking him to doctors for since he was 7 months old). He didn't sit until 10 months old, didn't crawl until his first birthday, and seems to have very limited fine motor skills and early speech skills (no babbling, no imitation, no jargoning.)

He was born a normal size (7lbs 10 oz, 20 3/4 inches) at 39 weeks, but has since started dropping off the growth chart. Right now he is in the 18th percentile for height and less than 1 percentile for weight (28.9 inches tall, 17lbs 7 oz). His head circ. is in the 19th percentile. I am 5'9, my husband is 6', so I wouldn't expect an especially small child. We struggled to get him to eat more than 50mls (less than 2 oz) at a time until he was more than 6 months old. Even now, he does not eat very much at once (7oz or less) but he is small so I don't expect him to eat an average amount.

He aspirated meconium and developed pneumonia in both lungs and was on supplemental oxygen for a month after being released from the NICU. His apgar scores were 8 at 1 min and 9 at 5 mins and he never lost conciousness, etc. so I do not believe he has cerebral palsy. A neurologist at Children's Hospital Oakland told us his delays and problems were not consistant with brain injury.

He had 2 cafe au lait spots that were very small since about 2 months old, but recently I have noticed 7-8 more, lighter ones that are larger. 2 of them are more than an inch in length. They are all located on his trunk and shoulders. He has grey sclera and purple circles under his eyes. He was diagnosed with 6th nerve palsy as one eye and then the other (but never both at once) sometimes come inward. He cannot move his eyes out from center, and when he tries his eyes kind of bounce. We are caucasian, but my son is darker than anyone in my family. While his whole body is tan, his lower arms and hands, and lower legs and feet are so dark that they look dirty almost. His fontanel on the top of his head was always very wide and doesn't feel like it has started to close at all, it feels about 2-2.5 inches wide and 1 or 1.5 inches front to back.

He was born with bilateral undescended testicles which never came down on their own after birth. He had surgery to pull one down in March and will have the other brought down surgically in August.

My fear is that he has fanconi anemia, though he also seems to sort of fit the bill for Russell Silver syndrome, except that he was born at a normal weight. We have had a chromosomal microarray analysis done, and are waiting for the results. But I just want to know if it seems to anyone else likes my son has a genetic syndrome of some sort instead of just a bunch of unrelated problems. Sometimes I fear I am just reading too much into it....but I really feel like there is a bigger picture, and something is really wrong with him. :(

 
Post an answer
Write a comment: