Discussions By Condition: Endocrine conditions

Infant with growth issues

Posted In: Endocrine conditions 3 Replies
  • Posted By: Firestar
  • November 28, 2007
  • 11:25 PM

I know someone with a daughter (3yrs old) who is losing weight (only weighs 20 lbs) and has some sort of bone and muscle problem. She doesn't seem to be growing. She can fit into a 3 month old's wardrobe and she has leg pains. She can't walk how she should be at her age (she walks on her toes). No one can come up with a diagnosis, though she has been in and out of the hospital for quite some time. Anyone have any ideas what this could be?

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  • I know someone with a daughter (3yrs old) who is losing weight (only weighs 20 lbs) and has some sort of bone and muscle problem. She doesn't seem to be growing. She can fit into a 3 month old's wardrobe and she has leg pains. She can't walk how she should be at her age (she walks on her toes). No one can come up with a diagnosis, though she has been in and out of the hospital for quite some time. Anyone have any ideas what this could be? Hi there - Has the child always been small or did she just start losing weight? Are there other symptoms besides the ones you listed? ( ex. feeding difficulties, hearing or vision problems, does she talk or do sign language). If she is having leg pain and walking on her toes it could be muscle tightness or contractures. Does she get physical therapy? Asking all the questions because I have a daughter who was very tiny (14lbs at age 3, never wore over size 6 months clothing) and never walked but when she was put in a standing position she would stand on her toes. There were LOTS of other symptoms though (easy sunburning, retinal degeneration, weakened immune system). But she had a rare genetic syndrome that is very difficult to diagnose and rarely seen by doctors. There are so many syndromes and things that can cause the issues you described. Do you know if the family has seen any genetic doctors?
    hope35 1 Replies
    • December 6, 2007
    • 06:55 PM
    • 0
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  • walking on her toes could be segawa's distonia or dopa responsive distonia (same thing they just keep renaming it) its a disease sort of like cerebral palsy, but it is degenerative without treatment.
    qwertyuiop123 453 Replies Flag this Response
  • These symptoms sound very similar to hypophosphatasia or HPP. My son has this disease. Early symptoms also include missed milestones, low muscle tone, low alkaline phosphatase (measured in a regular blood panel) and early tooth loss (of baby teeth). For more information you can go to the HPP Foundation website at www.SoftBones.org
    Anonymous 1 Replies Flag this Response
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