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 T2 weighted images. On fluid attenuated inversion recovery images, the signal intensity resembled that of CSF in the central areas of T2 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.
- Head trauma
- Vanishing white matter disease
ASJC Scopus subject areas
- Clinical Neurology