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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Pattern recognition on brain magnetic resonance imaging in alpha dystroglycanopathies
Parayil S Bindu1, Narayanappa Gayathri, Rose D Bharath
1Department of Neurology, National Institute of Mental Health And Neurosciences (NIMHANS), Bangalore, India.
Neurology India
|July 21, 2010
Summary
Alpha dystroglycanopathies, a group of genetic disorders, often present with distinct brain imaging findings. Recognizing these specific Magnetic Resonance Imaging (MRI) patterns can aid in diagnosing this condition.
Area of Science:
- Neurology
- Medical Genetics
- Radiology
Background:
- Alpha dystroglycanopathies encompass a phenotypically and genetically diverse range of disorders.
- A subset of patients with alpha dystroglycanopathy exhibits characteristic brain imaging abnormalities.
Purpose of the Study:
- To report on four patients with typical alpha dystroglycanopathy imaging findings.
- To highlight the consistency of brain imaging features despite clinical and histopathological heterogeneity.
Main Methods:
- Clinical assessment of four patients with alpha dystroglycanopathy.
- Detailed Magnetic Resonance Imaging (MRI) analysis of the brain in affected individuals and a family member.
Main Results:
- Consistent MRI findings included polymicrogyria, white matter changes, pontine hypoplasia, and subcortical cerebellar cysts.
- Other observed anomalies were ventriculomegaly, callosal abnormalities, absent septum pellucidum, and Dandy-Walker variant malformation.
- Imaging features were remarkably similar across patients, even with varied clinical presentations.
Conclusions:
- Characteristic brain MRI patterns are a valuable diagnostic clue for alpha dystroglycanopathy.
- Pattern recognition on MRI can facilitate diagnosis, even with heterogeneous clinical and histopathological features.
