Neonatal Alexander disease: MR imaging prenatal diagnosis
E Vázquez1, A Macaya, N Mayolas
1Department of Pediatric Radiology, Area Materno-Infantil, Hospital Universitari Vall d'Hebron, Universidad Autónoma de Barcelona, Barcelona, Spain. evazquez@vhebron.net
AJNR. American Journal of Neuroradiology
|July 26, 2008
Summary
Prenatal diagnosis of Alexander disease (AD) is possible through characteristic fetal MRI findings. A case study confirmed a GFAP gene mutation, highlighting the importance of advanced imaging in identifying this rare neurodegenerative disorder.
Area of Science:
- Neurodegenerative Disorders
- Pediatric Neurology
- Medical Imaging
Background:
- Alexander disease (AD) is a rare, fatal neurodegenerative disorder.
- Characterized by megalencephaly, leukoencephalopathy, and Rosenthal fibers.
- Limited data exists on prenatal diagnosis of AD.
Observation:
- A female fetus presented with ventriculomegaly at 32 weeks' gestation.
- Distinctive MRI features were observed at multiple gestational stages and postnatally.
- Clinical presentation included megalencephaly and leukoencephalopathy.
Findings:
- Fetal MRI revealed characteristic imaging patterns suggestive of Alexander disease.
- Molecular analysis confirmed a missense mutation in the Glial Fibrillary Acidic Protein (GFAP) gene.
- Rosenthal fibers were noted within astrocytes.
Implications:
- This case highlights the potential for prenatal diagnosis of Alexander disease using advanced MRI techniques.
- Early identification can aid in genetic counseling and management planning.
- Further research into fetal imaging markers for AD is warranted.
