Neonatal Alexander disease: MR imaging prenatal diagnosis

AJNR Am J Neuroradiol. 2008 Nov;29(10):1973-5. doi: 10.3174/ajnr.A1215. Epub 2008 Jul 24.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Alexander Disease / congenital*
  • Alexander Disease / diagnosis*
  • Female
  • Humans
  • Magnetic Resonance Imaging / methods*
  • Pregnancy
  • Prenatal Diagnosis / methods*