Fetal-onset Alexander disease with radiological-neuropathological correlation

Area of Science:

• Neuroscience
• Genetics
• Radiology

Background:

• Alexander disease is a genetic leukodystrophy caused by GFAP gene mutations.
• It primarily affects astrocytes and leads to white matter degeneration.

Observation:

• This report details prenatal and post-mortem neuroimaging in a fetal-onset Alexander disease case.
• Fetal brain MRI in the third trimester was used alongside neurosonography.

Findings:

• Diffuse periventricular white matter signal abnormalities suggest Alexander disease.
• Thickening of the fornix and optic chiasm are key indicators.
• Atypical findings like microcephaly and cortical abnormalities were observed, expanding the known phenotype.

Implications:

• Fetal MRI is a valuable tool for diagnosing suspected fetal-onset Alexander disease.
• Understanding imaging variability aids in earlier and more accurate diagnosis.
• This research contributes to the broader knowledge of Alexander disease phenotypes.