Document Detail

Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS.
MedLine Citation:
PMID:  18287567     Owner:  NLM     Status:  MEDLINE    
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.
B M Keegan; C Giannini; J E Parisi; C F Lucchinetti; B F Boeve; K A Josephs
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-02-20
Journal Detail:
Title:  Neurology     Volume:  70     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2008 Mar 
Date Detail:
Created Date:  2008-03-25     Completed Date:  2008-06-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1128-33     Citation Subset:  AIM; IM    
Department of Neurology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA.
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MeSH Terms
Age of Onset
Axons / pathology*
Biological Markers / analysis
Brain / pathology*,  physiopathology
Dementia, Vascular / pathology*,  physiopathology
Diagnosis, Differential
Diagnostic Errors
Disease Progression
Fatal Outcome
Immunologic Factors / therapeutic use
Magnetic Resonance Imaging
Middle Aged
Multiple Sclerosis / pathology*,  physiopathology
Nerve Fibers, Myelinated / pathology
Phosphopyruvate Hydratase / cerebrospinal fluid
Predictive Value of Tests
Severity of Illness Index
Treatment Failure
Wallerian Degeneration / diagnosis,  pathology*,  physiopathology
Reg. No./Substance:
0/Biological Markers; 0/Immunologic Factors; EC Hydratase
Comment In:
Neurology. 2008 Mar 25;70(13 Pt 2):1071-2   [PMID:  18362269 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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