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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Magnetic resonance imaging "tigroid pattern" in Alexander disease
Roberta Biancheri1, Andrea Rossi, Isabella Ceccherini
1Department of Neuroscience, Istituto G Gaslini, Genova, Italy. roberta@biancheri.com
Neuropediatrics
|December 21, 2012
Summary
Alexander disease (AD), a rare white matter disorder, can present with a unique "tigroid pattern" on MRI scans. This case highlights a novel imaging finding in a pediatric patient with a GFAP gene mutation.
Area of Science:
- Neuroscience
- Genetics
- Radiology
Background:
- Alexander disease (AD) is a rare, fatal neurodegenerative disorder affecting white matter, primarily caused by mutations in the glial fibrillary acidic protein (GFAP) gene.
- Infantile AD typically presents with diffuse white matter abnormalities, particularly in the frontal lobes, leading to severe motor and cognitive deficits, seizures, and megalencephaly.
Observation:
- This report details a 10-year-old patient with Alexander disease who exhibited a slow clinical and neuroradiologic disease progression.
- A notable observation was the presence of a "tigroid pattern" on magnetic resonance imaging (MRI), a finding not previously well-documented in AD.
Findings:
- The patient harbored a de novo missense mutation, c.235C > T (p.R79C), in the GFAP gene.
- The identified tigroid pattern on MRI is a distinct imaging characteristic that expands the known spectrum of neuroradiologic findings in Alexander disease.
Implications:
- This case broadens the understanding of the phenotypic variability in Alexander disease, particularly concerning its imaging manifestations.
- Recognizing the tigroid pattern in AD may aid in earlier diagnosis and differential diagnosis from other white matter disorders like Pelizaeus-Merzbacher disease or lysosomal storage diseases.
