Hello. I am posting in reference to my 2 1/2 year-old daughter, she has been diagnosed with hypotonic cerebral palsy, which from a previous post about her about 6 weeks ago, the neuro MD stated is very rare a probably has a metabolic origin. We had her pediatrition order the recommened baseline metabolic work-up consisting of CPK, Lactate, Pyruvate, urine and serum organic acids, amino acids and free and acyl carnitine. Some labs are still pending, but her lactate came back as mildly high--26 (her pedi who we trust--admitted she is not very familiar with these studies but felt that this was nothing to be concerned about)(normal values in her reference book were 12-16,sometimes up to 20). We are not feeling comfortable and wanted another opinion about this mildly high lactate and its significance. Our daughter is motor developmentally delayed and has had a normal MRI at 18monthes of age, cognitivly she is at age level thus far. Any advice of where to go from here is greatly appreciated.
If the blood work was drawn easily and not with difficulty, then we would be moderately concerned. The serum and urine organic and amino acids will help alot in this situation. The MRI being normal is a very good sign (did a pediatric neuroradiology read the MRI?). The fact that she is developing normally with language and fine motor skills is also a very good sign. Hypotonic CP is not a common disorder and we tend to work these children up for metabolic disorders, as your physician has done. I would see what the other outstanding tests come back like and then pursue a further workup if that is positive for a metabolic disorder.
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