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Updated: May 15, 2026
07:45
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Infantile Alexander disease: A rare leukodystrophy
K Jagadish Kumar1, H Suryaprakash, V G Manjunath
1Department of Pediatrics, JSS Medical College, JSS University, Mysore, Karnataka, India.
Journal of Pediatric Neurosciences
|December 19, 2012
Summary
Infantile Alexander disease, a rare leukodystrophy, presents early with severe symptoms. This case highlights typical clinical and MRI findings in infantile Alexander disease.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Alexander disease is a rare genetic leukodystrophy.
- Infantile form has early onset and severe neurological deficits.
Observation:
- A case of infantile Alexander disease is presented.
- Patient exhibited macrocephaly, seizures, and psychomotor retardation.
- MRI revealed characteristic white matter abnormalities.
Findings:
- The case aligns with typical infantile Alexander disease presentation.
- Symmetric white matter changes with frontal predominance were noted on MRI.
Implications:
- Early diagnosis of infantile Alexander disease is crucial.
- Understanding typical MRI findings aids in prompt identification.
- Further research into Alexander disease pathogenesis is warranted.
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