Abstract
A 20-year-old previously healthy man presented with prolonged consciousness alteration and severe hypertonia in the extremities after minor head trauma. Laboratory blood tests and cerebrospial fluid (CSF) tests were unremarkable except for an elevated CSF glycine concentratons. Brain MRI revealed hypoplasia of corpus callosum, enlargement of lateral cerebral ventricle and high signal intensity in the bilateral white matter on T(2) weighted images. On fluid attenuated inversion recovery images, the signal intensity resembled that of CSF in the central areas of T(2) alterations, surrounded by a rim of hyperintensity. These characteristic history and the results of brain MRI and CSF, the diagnosis of vanishing white matter disease (VWMD) was made. VWMD is a rare autosomal recessive leukoencephalopathy which typically begins during infancy or early childhood with a chronic progressive neurological deterioration with cerebellar ataxia and spasticity. Recently, milder variants of the disease with adult onset have been reported. VWMD should be included in the differential diagnosis of leucoencephalopathy in young adults.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
