Discussions By Condition: I cannot get a diagnosis.

My son

Posted In: I cannot get a diagnosis. 2 Replies
  • Posted By: worriedmominohio
  • January 17, 2008
  • 10:46 PM

I had posted late last night but I didn't have his paperwork out so I wanted to repost giving exactly what the Dr had put in the report in hopes that someone here might be able to tell me what it all means and if there is any clue what might be going on.

April 3, 2006.....Neurological Exam :Leg twitching, diplegia and hyperreflexia. Speech delay and some tendancies towards aggressive behavior. Funduscopic exam was unable to be completed due to cooperation but he had bilateral red light reflexes. Cranial nerves II-XII were grossly intact. Muscle tone was good throughout. Muscle strenght was 5/5 in both upper and lower extremities. He did have 2+ reflexes except for 3+ and brisk in both knees and ankles bilaterally. Coordination and gait were within normal limits for his age.

I took him back this month and they haven't sent the copy of the report yet but it has remained basically the same I believe. Right leg is now turning inwards though with toes pointing towards left leg. Behavioral problems getting worse. Regressing towards toddler like destructive behavior. Stares off into space, falls and doesn't remember why, trips a lot, can't concentrate most of the time, trouble sleeping, drooling and a need to spit often, hyperactivity but slowed down due to legs which frustrates him and makes him very upset. Waiting for Dr's report, EEG and next visit to physical therapy and not sure what else after that. Growth wise he is 90th percentile on height and weight.Blood pressure is good. MRI done in Oct 2006 came back normal of brain and spine. No Contrast done. Sleep study only showed short REM stage.

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2 Replies:

  • Worried Mom,I am so sorry your son is having such symptons. You need to go to and get a second opinion. See a neurologist soon. Your son needs help as soon as possible.Janet Lewis, RN, MSN
    Jankim9597 20 Replies
    • January 19, 2008
    • 10:43 PM
    • 0
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  • okey, sounds like a lipid storage disorder.dystonia = contracture of muscle causing twitching or abnormal function, thats your sons leg/foot, gait abnormalities, devlopmental difficulties especially the speech part all point to one of the many lipid storage diseases.most of these are genetic, call up your family and ask if anyone was/is diagnosed with a lipid storage disease. if you are ashkenazi jewish or french canadian, this puts you at higher risk. you need to ask your doctor to do a genotyping on both you and your kid for Fabry's, Gangliosidosis 1 and 2 and Neimann-Pick (those are the ones off the top of my head, your doctor will know more, in fact there is a genotyping checklist for lipid storage diseases). Also check your kids startle reflex (walk into a room without him noticing and drop something on the floor, a normal child will look in the direction the dropped object, lipid storage diseases will inhibit this reflex).Finally, please put up your kids age. this is one of the most important factors in what he has.
    Anonymous 42,789 Replies
    • January 20, 2008
    • 04:56 AM
    • 0
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