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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
PubMed
Summary

Alexander disease is a rare leukodystrophy causing white matter degeneration. This case highlights typical MRI findings and megalencephaly in a pediatric patient.

Keywords:
Alexander diseaseLeukodystrophyMegalencephalyPediatric neurology

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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.