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Leg pain, not able to walk, febrile illness, mitochondrial proliferation, breath smelling of urine. Suggestion?

I have a 9 year old daugher that started have episodes of leg pain and inability to walk 24 hours after a febrile illness . After the 2nd episode she was sent to a nerologist. After 3rd episode her cpk was 2590, 4th episode 790. She had a muscle biopsy done in 09 which showed mitochondrial proliferation. she also tested for a previous epstein barr infection (don t know if that means anything). She had a slight low pompe s enzyme test results. They just did a caritine profile and all was normal. She has had a couple episodes of her breath smelling of urine. She started walking at 1 normally and when she was 3 started and continues to toe walk......I was just wondering if you had any other sugestions to get a definative diagnosis.....currently diagnosed as metabolic myopathy.....Thank you....Stacy
Asked On : Tue, 3 Apr 2012
Answers:  1 Views:  68
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Rheumatologist 's  Response
Dear Madam,

There exists definitely a possibilty of mitochondrial myopathy or metabolic myopathy . I think doctors have adequately examined your daughter .

Dr. Shruti
Answered: Tue, 25 Mar 2014
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