Annals of Indian Academy of Neurology
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Year : 2006  |  Volume : 9  |  Issue : 3  |  Page : 172-174

Vanishing white matter disease: Phenotypic, MR imaging and 1H spectroscopic observations

1 Department of Neuroimaging and Interventional Neuroradiology, National Institute of Mental Health and Neurosciences, Bangalore, India
2 Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India

Correspondence Address:
S Sinha
National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore - 560 029
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0972-2327.27662

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We report MR imaging features of vanishing white matter disease in a 7-year-old boy, who manifested with seizures, aphasia, spastic quadriparesis and myoclonic jerks. MRI of brain showed diffuse white matter signal changes of CSF intensity in all the sequences. MR spectroscopy of white matter showed severe decrease in NAA, choline and creatine and presence of lactate peak. Additional notable findings were diffuse extensive brain stem and thalamic atrophy. The clinico-radiological correlation was consistent with the diagnosis of vanishing white matter disease. Reporting of such cases may widen the spectra of these disorders.

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