Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.
case_series · Level IV
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- Record sourced from PubMed, PMID 15851747.
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Abstract
The authors describe four unrelated girls with a distinctive neurologic disorder with early-onset progressive ataxia and hypodontia with a characteristic pattern of delayed dentition. Cerebral MRI shows hypomyelinated white matter and cerebellar atrophy; 1H-MRS of white matter reveals a marked elevation of myo-inositol.