title: [Three cases of non-differentiated leukodystrophy with involvement of cerebral hemisphere's white matter and cerebellum and specific lesions of cerebral pathways. Neuroimaging and clinico-biochemical characteristics].
abstract: We presented three cases of the non-differentiated White Matter's disease. There are clinical resemblance and the similar MRI patterns including MR spectroscopy in all patients. They are outpatients: girl (K), 7 years old, boy (N), 13 yrs and young men (N), 24 yrs without any family relationship, and were investigated in Burdenko Neurosurgical Institute, in 2002 year. The cerebral MRI examinations all of that patients have shown extensive abnormalities in the hemispheric's white matter of cerebrum and cerebellum. Meanwhile there are some specific lesions of the brain stem's tracts (the posterior limb of the internal capsule, the splenium of the corpus callosum, the medial lemniscus and the mesencephalic trigeminal tracts). Step by step progression of suffer ness with unknown time of beginning, mild mnestic reduction and hemyparesis and moderate cerebellar disorder without loss of sensitivity were characteristic for all patients. The results of the biochemical markers for leucodistrophy testing are negative. A proton spectrum of the abnormal white matter showed elevated lactate in one case (girl, 7 yrs). In our opinion clinical diagnosis in all three cases is the new pathology that some body named as "WMDL" (White matter disease with lactate). It should be differentiated with adrenoleucodistrophy, Refsum disease and NARP syndrome (neuropathy, ataxia, pigmentive retinitis).
authors.forename: S V
authors.initials: SV
authors.lastname: Serkov
authors.forename: I N
authors.initials: IN
authors.lastname: Pronin
authors.forename: O V
authors.initials: OV
authors.lastname: Bykova
authors.forename: O I
authors.initials: OI
authors.lastname: Maslova
authors.forename: L M
authors.initials: LM
authors.lastname: Fadeeva
authors.forename: N V
authors.initials: NV
authors.lastname: Arutiunova
authors.forename: T I
authors.initials: TI
authors.lastname: Muravina
authors.forename: V N
authors.initials: VN
authors.lastname: Kornienko
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D007839:Functional Laterality / Q000502:physiology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009434:Neural Pathways / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D019636:Neurodegenerative Diseases / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology