Have a question about pediatric movement disorder. Anyone out there who specializes in this field?
there is no pediatric neurologist on the site at this time but all adult neurologists have pediatric and movement disorder knowledge.if you wish, you can post your question and i will answer it.
My question is pretty complex. Here are the significant events and direction we are headed. Would be interested in additional input on path for diagnosis.
hi,i'm not sure i understand your concern about leukodystrophies.did the child have a followup MRI that suggested it or was consistent with it? does he have any cognitive developmental delay?
My concern about Leukodystrophies are because our daughter has an unexplained movement disorder that appears to be progressive and aside from a diagnosis of secondary dystonia we really don't have clarity on why we are getting progressively worse. Lysosomal/peroxisomal storage disorders were brought up by our neurologist as a possibility although not likely because MRI is not "impressive". Really just looking for insight on Leukodystophies that are present with normal enzyme screening or other thoughts on path for diagnosis. Make sense?
hi again, it is highly unlikely that a child with not "impressive" brain MRI would have leukodystrophy. the hallmark of all leukodystrophies is abnormal brain myelination that cannot be missed on brain MRI - in other words it is impressive. even if the white matter involvement is not extensive, abnormalities correlating with clinical symptoms are seen. there are essentially three underlying pathologies that can cause them: peroxisomal, lysosomal and mitochondrial disorders. in a lot of these disorders cognitive development is affected, sometimes with significant delay or mental retardation but you have not answered my question about this so i assume her cognitive development is normal. in addition, there is organ -- including liver, heart, muscle -- pathology in a lot of these conditions (especially in enzymatic errors and deficiencies). there is genetic and other testing for these conditions. if there is evidence of perinatal stroke on the brain MRI, then the left calf involvement can be progressive spasticity due to cerebral palsy (secondary to a perinatal event like stroke or hemorrhage) that evolved into (secondary) dystonia.. however, there would be no question that there is an abnormality on the brain MRI and they would not call it unimpressive. that said, a focal seizure is always a result of some kind of a brain insult - stroke, mass/tumor, and in this age group it may be a neuronal migrational disorder (ex. cortical dysplasia/white matter heterotopia - when white matter does not develop properly and gray matter does not end up in proper areas because of that). while neuronal migrational disorders are evident on imaging, they may not always be readily visible on brain MRI and it may take a small group of cells to cause problems. the list of disorders that can cause secondary dystonia (the primary is a very short list) is extensive and all these disorders are ruled out with brain MRI imaging and on the basis of absence or presence of other associated pathology (ex. liver abnormalities). i assume dopa-responsive dystonia has been ruled out (by trial of small dose levodopa) because it is a treatable condition. it tends to develop between infancy and early teenage years, is progressive and girls are affected more frequently than boys.