title: [Case of adult onset vanishing white matter disease developed after minor head trauma].
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.
authors.affiliation: Department of Neurology, Graduate School of Medicine, Chiba University.
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Koga
authors.forename: Yukari
authors.initials: Y
authors.lastname: Sekiguchi
authors.forename: Kazuaki
authors.initials: K
authors.lastname: Kanai
authors.forename: Mayumi
authors.initials: M
authors.lastname: Mutoh
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kuwabara
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000134:cerebrospinal fluid; D003244:Consciousness Disorders / Q000209:etiology; D006259:Craniocerebral Trauma / Q000150:complications*; D003937:Diagnosis, Differential; D005998:Glycine / Q000134:cerebrospinal fluid; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis* / Q000209:etiology* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009122:Muscle Hypertonia / Q000209:etiology; D055815:Young Adult
chemical_list: D015415:Biomarkers; D005998:Glycine