title: Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS.
abstract: BACKGROUND
  Leukoencephalopathy with neuroaxonal spheroids is a rare cause of severe, subacute dementia that usually presents in childhood and is inherited in an autosomal dominant pattern. The authors present clinical, radiologic, and pathologic features of adult-onset, sporadic cases mimicking cerebral-type progressive MS.
  
  
  METHODS
  Five patients referred to an MS subspecialty clinic from 1999 to 2006 suspected of having primary cerebral MS. All patients were reviewed clinically, radiologically, and pathologically at Mayo Clinic Rochester. Diagnostic brain biopsies were examined by two neuropathologists.
  
  
  RESULTS
  All patients had severe, progressive cognitive and motor impairment, often with prominently asymmetrical features and diffuse nonenhancing subcortical white matter lesions on brain MRI. Cerebrovascular and spinal cord imaging were normal. CSF showed elevated neuron-specific enolase without elevated oligoclonal bands or IgG index. Extensive evaluations for alternative diagnoses were unrevealing. Pathologic examination confirmed leukodystrophy with neuroaxonal spheroids and pigmented glia on all patients. Therapies initiated did not alter the severe progressive disease course.
  
  
  CONCLUSIONS
  Leukoencephalopathy with neuroaxonal spheroids occurs sporadically, in adults, and mimics cerebral-type MS or other leukodystrophies. Brain biopsy may be diagnostic in life; however, no treatment is known to be effective. Pathologic diagnosis is important to avoid potentially toxic therapies aimed at CNS inflammatory diseases such as MS.
authors.affiliation: Department of Neurology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA. keegan.bmark@mayo.edu
authors.forename: B M
authors.initials: BM
authors.lastname: Keegan
authors.forename: C
authors.initials: C
authors.lastname: Giannini
authors.forename: J E
authors.initials: JE
authors.lastname: Parisi
authors.forename: C F
authors.initials: CF
authors.lastname: Lucchinetti
authors.forename: B F
authors.initials: BF
authors.lastname: Boeve
authors.forename: K A
authors.initials: KA
authors.lastname: Josephs
mesh_terms: D000328:Adult; D017668:Age of Onset; D001369:Axons / Q000473:pathology*; D015415:Biomarkers / Q000032:analysis; D001921:Brain / Q000473:pathology* / Q000503:physiopathology; D015140:Dementia, Vascular / Q000473:pathology* / Q000503:physiopathology; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000473:pathology* / Q000503:physiopathology; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D010751:Phosphopyruvate Hydratase / Q000134:cerebrospinal fluid; D011237:Predictive Value of Tests; D012720:Severity of Illness Index; D017211:Treatment Failure; D014855:Wallerian Degeneration / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology
chemical_list: D015415:Biomarkers; D007155:Immunologic Factors; D010751:Phosphopyruvate Hydratase