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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 27:2088-2092, November-December 2006
© 2006 American Society of Neuroradiology

Case Report
PEDIATRICS

Discrepancy Between Neuroimaging Findings and Clinical Phenotype in Alexander Disease

A. Dinopoulos^a, J.R. Gorospe^c, J.C. Egelhoff^b, K.M. Cecil^b, P. Nicolaidou^d, P. Morehart^a and T. DeGrauw^a

^a Department of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio
^b Department of Radiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio
^c Center for Genetic Medicine, Children’s National Medical Center, Washington, DC
^d Department of Pediatrics, Attiko University Hospital, Athens, Greece

Address correspondence to Argirios Dinopoulos, MD, PhD, Neurology Division, Cincinnati Children’s Hospital Medical Centre, 3333 Burnet Ave, Cincinnati, OH 45229-3039; e-mail: argidino{at}yahoo.com

SUMMARY: We present a case of infantile-onset Alexander disease (AD) with a novel glial fibrillary acidic protein mutation but without clinical evidence of neurologic deterioration. Brain MRI studies showed typical AD findings and increasing size of frontal cavitations. Serial proton MR spectroscopy demonstrated high levels of myo-inositol and lactic acid and decreasing levels of N-acetylaspartate. The degree of demyelination and the timing of the axonal degeneration may determine phenotypic severity of the disease. Conventional neuroimaging techniques cannot always predict the outcome.

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