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Pelizaeus-Merzbacher disease in children: A case report
Nguyen Van Thuong1, Vu Tien The2, Vu Duy Lam3
1Department of Pediatrics, Thanh Nhan Hospital, Hanoi, Vietnam.
Radiology Case Reports
|October 27, 2025
Summary
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked leukodystrophy causing progressive neurological disability. Early detection via MRI is vital for managing this unremitting myelination disorder, though specific treatments remain elusive.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive leukodystrophy characterized by progressive demyelination.
- This condition leads to severe neurological disability and significantly impacts patients and their families.
- Currently, no specific treatments exist for PMD, highlighting the need for early diagnosis and management strategies.

