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Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS

From the Departments of Neurology (B.M.K., J.E.P., C.F.L., B.F.B., K.A.J.) and Laboratory Medicine and Pathology (C.G., J.E.P.), Mayo Clinic College of Medicine, Rochester, MN.

Address correspondence and reprint requests to Dr. B. Mark Keegan, Department of Neurology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905 keegan.bmark{at}mayo.edu

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.

GLOSSARY: FLAIR = fluid attenuation inversion recovery; NSE = neuron-specific enolase.

Editorial, page 1071

e-Pub ahead of print on February 20, 2008, at www.neurology.org.

Disclosure: B. Mark Keegan and Joseph E. Parisi receive compensation as section editors for Neurology®.

Received August 30, 2007. Accepted in final form October 30, 2007.

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