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Hypotonia, CP, genetic syndrome
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Hypotonia, CP, genetic syndrome

Hello.  I am writing in reference to my 2 1/2 yr.-old daughter.  She has hypotonia, hx. of seizures (off medication since 9 monthes of age), flat nasal bridge, motordevelopmentaldelays high ched narrow palate, and large head--100th percentile. Her labor and delivery were uncomplicated.  Siezures were neonatal and cat scan showed subarachnoid hemmorhage.  Hypotonia diagnosed at 6 weeks.  MRI at 18 monthes showed normal brain and chronic maxillary sinus disease. (whatever that means). She has been seen bygenetics at a major childrens hospital, and has normal chromosomes, and rest of the exam was inconclusive.  She is cognitivly normal for her age and recieves early intervention services of PT, OT, and Speech.  Her neurologist suggests that any condition that causes alter muscle tone and delayed development can be call Cerebral Palsy, she has no spasticiy, and from our reasearch we understand that only a very small number of kids with CP are solely hypotonic.  We don't feel comfortable with the genetics eval.  Where do you suggest we go from here?  Is this truly CP?  From our understanding there are usually no lasting neuro problems after subarachnoid hemmorhage.
Thank you for and thought or guidence.
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Dear Randee Bates:

I am sorry to hear about your daughter.  As you well know, CP is just a term used to define a child with static and non-progressive state that is usually encephelopathic(developmental delay) that may or may not have peripheral involvement.  Most of the time, the etiologist is difficult to know.  There is a small portion of these infants that are hypotonic.  However, we (at here at the Cleveland Clinic) that hypotonic CP is rare and a partial metabolic work up should be performed.  The normal MRI is a good sign and normal intelligence thus far (normal cognitive milestones of social smile, interaction with the environment, words, following simple commands etc) is also very comforting.  How hypotonic is your child?  Is the hypotonia central, peripheral, or both?  Any problems with eye movements?  What about constipation?  Long recovery from illness?  Easy fatigue after excercise?  Two years is alittle far out for benign hypotonia of infancy.  Is the large head based on head size alone or is it a relative magencephalopathy (meaning that the head is large compared to the body size and weight)?  

The easiest initial workup would be for levels of CPK, lactate, pyruvate, serum and urine amino acids, organic acids, free and acyl carnitine.  

Sincerely,

CCF Neuro MD
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Thank you for your help.  In answer to the questions asked--My daugther has a large head in comparison to her body.  Her weight is usually around the 25th percentile, length around the 40-50th percentiles and head in the 100th.  She has truncal as well as peripheral hypotonia.  Her motor development is at a 10-12 month level--she is 29 months.  She does have difficulty with chewing and biting.  Her expressive language is at about 18months, her receptive language is age appropriate.  If I remember correctly she did have a metabolic work-up done at approximatly 2-3 months of age.  The results were negative.  Though I don't recall urine amino acids.  Could these results have changed?  Does this sound like hypotonic CP?  Should we search further genetically or metabolically?  Are there any internet sites like this one for gentics or other disorders that may be helpful to us?  Thanks once again for any input.
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Dear Randee Bates:

I would check if amino acid and urine organic acids were performed.  If there is a hint that a metabolic process is going on then a muscle biopsy might (might) want to be considered.  In our experience, hyptonic CP exists but it is rare.  We often find a metabolic etiology in this condition.  Either a congenital myopathy or metabolic etiology would be a good guess.  I must warn you that an internet diagnosis is fraught with problems.  Not being able to see the neuroimagining studies, and not being able to examine the child places the internet physician at a great disadvantage.  Many metabolic disorders to not give classic urine and serum abnormalities of amino or organic acids.  Many times these can be normal depending on the situation, such as in a non-stressed condition.  Best results are when a child is sick or after an overnight fast.

Sincerely,

CCF Neuro MD
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My daughter is 14 months old.  She has renal insufficency.  Her nephrologist recently noticed  "floppy" appearance of her back and shoulders.  He wanted to see if after she gained weight, if she might get better.  She has always had narrow shoulders.  She was 34 weeks gestation at birth.  She has been the same weight for 6 months.  She has only grown in height by 1/2 inch.  Her head has always been in her normal range, until recently.  She was very sick for two months.  I have always just attributed her lack of growth to this. She had severe gastro reflux until she was 10 months old.  Now she is having trouble learning to chew, bite and swallow.  She is still on stage 2 baby food at 14 monthsof age.  The nephrologist has mentioned hypotonia.  What is your opinoin?  She does pull up, crawl, and is trying to walk.
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Dear Kathy McDonnell:

What does your pediatrician indicate?  Alot of renal problem children are short, likely due to growth hormone effects and metabolism in general.  However, even with illness, your daughter should not have stopped growing and gaining weight.  I would check with your pediatrician about this.  It also sounds like she is alittle behind in motor development.  How is the fine motor control, pincher grasp, transfer, using a pencil, picking up objects that are small...  It might be wise to get an opinion from a pediatric neurologist that has the opportunity to do a good physical examination.

Sincerely,

CCF Neuro MD
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