Atypical variant of Alexander's disease with involvement of the spinal cord

Busch, V.; Freisinger, Peter; Rüdisser, Klaus; Salomons, G. S.; Baumeister, F. A. M.; Knaap, van der

doi:10.1055/s-2006-953533

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“…5 DNA analysis demonstrated a mutation in the GFAP exon 1 sequence (c.205G>A*, p.Glu69Lys), a mutation reported to be pathogenic for Alexander disease. 15 Over the subsequent year, she showed neurological deterioration with progressive bulbar signs. Intermittent courses of corticosteroids were employed to reduce the mass effect of the lesions.…”

Section: Case Descriptionmentioning

confidence: 99%

Magnetic Resonance Spectroscopy in the Diagnostic Evaluation of Brainstem Lesions in Alexander Disease

et al. 2011

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Alexander disease is a progressive neurodegenerative disease, which can present with brainstem lesions with imaging characteristics similar to multifocal low-grade glioma, thus presenting a diagnostic dilemma. The authors report a 6-year-old child presenting with multifocal brainstem lesions subsequently diagnosed to have Alexander disease. In vivo magnetic resonance spectroscopy generated a metabolite profile of the lesion allowing differentiation from low-grade glioma. Magnetic resonance spectroscopy is a powerful tool in the assessment of brainstem lesions and is a useful adjunct to conventional magnetic resonance imaging in the assessment and diagnosis of atypical brain lesions.

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Section: Case Descriptionmentioning

confidence: 99%