Author(s): Sindu P. Gowdar1, Naveen S. Maralihalli2, Pramod Setty J3, Rajesh Venunath4, Mithila P. V5
Vanishing white matter disease (VWM) is one of the most prevalent inherited childhood Leucoencephalopathies. We report MR imaging features of vanishing white matter disease in a 4-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.