Rare Diseases Symptoms Automatic Extraction

Neonatal Alexander disease: MR imaging prenatal diagnosis.

[alexander disease]

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.

Diseases presenting "megalencephaly" symptom

  • alexander disease
  • canavan disease
  • cowden syndrome
  • proteus syndrome

This symptom has already been validated