incomplete myelination

I have a two-year old daughter who has gone thru a slew of genetic/metabolic tests this year. Only three abnormalities have been found so far- gross lactic acidosis through a urinary analysis (which was found to be normal on a 2nd screening), lactate peaks in the brain (slight increase of lactate metabolites along the left frontoparietal parasagittal cortical gray/subcortical white matter segments) though an MRS, and incomplete myelination (of subcortical and deep perviventriclar white matter segments in both hemispheres including the periatrial periventricular transitional zones) through both MRI and MRS.

Her symptoms are flacidity/spaticity, leading to lack of motor control (she has lost sitting and even head control). She has constant seizures and takes Keppra for this.

We are pursuing the lead we have with Miochondria Respiratory Chain Disorder (initial test resulted negative but we're now looking deeper- the electron transport chain). However, I am planning to have her undergo another MRI (it's soon to be a year since the first time) to check on the incomplete myelination.

I am therefore interested whether anyone can share with me their experiences (symptoms of their children) if they think it to be similar as mine.

Best Regards,




This discussion is related to Noah's very rare myelin disorder.