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Juvenile alexander disease: a case report
Halit Ozkaya1, Abdullah Baris Akcan1, Gokhan Aydemir1
1Department of Pediatrics, Gulhane Military Medical Academy Haydarpasa Teaching Hospital, Istanbul, Turkey.
The Eurasian Journal of Medicine
|January 23, 2015
Summary
Alexander disease is a rare leukodystrophy causing white matter degeneration. This case highlights typical MRI findings and megalencephaly in a pediatric patient.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Alexander disease is a rare, autosomal recessive leukodystrophy affecting the central nervous system's white matter.
- Characterized by megalencephaly, demyelination, and Rosenthal fibers, it typically presents in early childhood.
Observation:
- A four-year-old patient presented with megalencephaly since birth.
- Brain MRI revealed leukodystrophy signs in the bilateral white matter.
Findings:
- The patient's presentation aligns with the characteristic features of Alexander disease.
- Diagnostic confirmation relies on specific MRI findings and genetic testing.
Implications:
- This case underscores the importance of early diagnosis for Alexander disease management.
- Further research into leukodystrophies can improve understanding and treatment strategies.
