title: Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study.
abstract: Leucodystrophy with neuroaxonal spheroids (LNS) is rare. There have been fewer than 10 sporadic cases reported, all occurring in the fourth to sixth decades of life. Previously unreported diffusion weighted imaging (DWI) changes on brain imaging in LNS are described as well as the first neurocognitive profile of this disorder in a 24-year-old woman. Neuropsychological testing demonstrated a global cognitive decline, with deficits most representative of a frontal-subcortical dementia. Bright DWI and corresponding dark apparent diffusion coefficient changes were initially mistaken for acute cerebral infarction but then persisted for 19 weeks. Biopsy of a bright DWI lesion showed no evidence of vascular disease and confirmed this rare diagnosis. Given the number of patients with the diagnosis of cerebrovascular disease, supported by DWI findings, we propose other milder cases of LNS may be overlooked.
authors.affiliation: Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
authors.forename: Farrah J
authors.initials: FJ
authors.lastname: Mateen
authors.forename: B Mark
authors.initials: BM
authors.lastname: Keegan
authors.forename: Karl
authors.initials: K
authors.lastname: Krecke
authors.forename: Joseph E
authors.initials: JE
authors.lastname: Parisi
authors.forename: Max R
authors.initials: MR
authors.lastname: Trenerry
authors.forename: Sean J
authors.initials: SJ
authors.lastname: Pittock
mesh_terms: D001369:Axons / Q000473:pathology*; D001921:Brain / Q000473:pathology*; D003072:Cognition Disorders / Q000175:diagnosis* / Q000209:etiology*; D038524:Diffusion Magnetic Resonance Imaging; D005260:Female; D006801:Humans; D019150:Neuroaxonal Dystrophies / Q000150:complications* / Q000473:pathology*; D009483:Neuropsychological Tests; D012720:Severity of Illness Index; D055815:Young Adult