Some Possible Findings in MECP2 Duplication Syndrome

questionHere are a few things that some families have reported but have not generally been included in official studies. They may or may not turn out to be features of MECP2 Duplication Syndrome, but they merit further attention to determine their status.

Pseudo-Prematurity (incomplete development for gestational age). Some parents have reported that their infants at birth were considered to be premature deliveries even though they were full-term pregnancies. Some have reported that there infants were premature but that the physicians overestimated the number of weeks premature based on physical findings, including Low birth weight, low muscle tone, lanugo (fine hair on body), undescended testicles, poorly developed ear cartilage, sluggish reflexes, difficulty nursing, minimal creasing on soles of feet and palms of hands, underdeveloped breast nodules. If confirmed, this is an unusual finding, and may provide a clue to early identification of the syndrome.

Low and Labile Basal Body Temperature A number of parents have reported that their child has a baseline body temperature several degrees below what is typically considered normal, For example, one individual’s basal temp remained around 34.7 C (94.5F) for years. Other families have mentioned that their child’s temperature can be quite variable. This information may be helpful for healthcare providers

Late Dentition Many parents report very late eruption of both first teeth and their adult replacements. Some have also noticed that enamel on teeth is thin.

Bluish Tinge in the Whites of the Eyes A slight blue or blue-gray tinge has been reported in the whites (sclera) of the eyes of older children and adults. This could indicate a thinning of the White layer allowing the some of the color of the layer below to be seen through the sclera. Bluish tinge of the sclera is often seen in the elderly and among people with osteogeneses  imperfecta, and may be a clue to bone density and connective tissue issues.

Neurogenic Bladder? A number of parents report older children or adults with MECP2 Duplication Syndrome get older they store very large quantities of urine in their bladders and urinate large amounts but infrequently (for example, once or twice during 24 hours.

Feel free to use comments to indicate whether you have seen any of tehse things in your family member with MECP2 Duplication Syndrome or whetehr there have been other unusual findings that you have noticed.

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4 responses to “Some Possible Findings in MECP2 Duplication Syndrome

  1. Our John, 21 months old, Is very hot natured. I don’t know what his baseline body temp is but it seems like his body has a difficult time with temperature regulation. Occasionally he will spike a low grade fever for only an hour or so with no other symptoms. This is an interesting post. Thanks!

  2. Jennifer Cline

    This is a very true and interesting post. Austin is 10 years old. He is the same way, he is very hot natured. He used to spike low grade fevers as well for no reason. As he got older he now does the only urinates about 2 times per day. He is 100% tube fed so he has a lot of liquids going in but holds it all, so I just assumed he had a really big bladder. The two diapers he has of urine a day is a lot of it. A couple times when he was sick and they would have to cath him, he would always have more urine than other kids his age. Thanks for the post, it is interesting to know why Austin did this things.

  3. Pseudo-prematurity, William had poorly formed ears and had all the symptons of a premature baby. Body hair and small compared to siblings.
    Body temp, Williams body temp can go as low as 35.0 and has to be warmed with blankets. With a fever he can go 41.7. He seems to have no internal thermostat. But only in phases, then he will go normal without any signs of infection indicating why.
    Neurogenic Bladder William passes urine in patches he can go 12 hours no wee then within hour fill 2 nappies to bursting. He has his output measured in hospital where he has been for 20 weeks and its always been the same.

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