Neonatal Alexander disease: MR imaging prenatal diagnosis. AJNR Am J Neuroradiol

Department of Pediatric Radiology, Area Materno-Infantil, Hospital Universitari Vall d'Hebron, Universidad Autónoma de Barcelona, Barcelona, Spain.
American Journal of Neuroradiology (Impact Factor: 3.59). 11/2008; 29(10):1973-5. DOI: 10.3174/ajnr.A1215
Source: PubMed


Alexander disease (AD) is a rare neurodegenerative disorder characterized by megalencephaly, leukoencephalopathy, and Rosenthal fibers within astrocytes. This report describes the case of a female patient with sonography-detected ventriculomegaly at 32 weeks' gestation and distinctive MR imaging features at 33 and 36 weeks' gestation, at birth, and at 2 months of age, which led to the suggested diagnosis of Alexander disease. Molecular analysis confirmed a missense mutation in the GFAP gene. The literature contains little information on the fetal MR imaging findings that may allow prenatal diagnosis of AD.

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Available from: Alfons Macaya, Dec 19, 2013
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    • "T1-weighted imaging sequences have a lower signal to noise ratio, require longer scanning times (up to 18 seconds per slice) and are hence much more susceptible to fetal and maternal motion. novel scanning sequences include the use of diffusion weighted imaging and diffusion tensor imaging for a more functional analysis of the developing brain (Guimiot et al., 2008; Vazquez et al., 2008). MRI scans have a big field of view and can be obtained in any given plane. "
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