Pelizaeus-Merzbacher disease in children: A case report.
| Title: | Pelizaeus-Merzbacher disease in children: A case report. |
|---|---|
| Authors: | Van Thuong N; Department of Pediatrics, Thanh Nhan Hospital, Hanoi, Vietnam.; The VT; Department of Radiology, Ninh Binh Hospital, Ninh Binh, Vietnam.; Lam VD; Department of Radiology, Thanh Nhan Hospital, Hanoi, Vietnam.; Thinh ND; Department of Radiology, Thanh Nhan Hospital, Hanoi, Vietnam.; Cuong BX; Department of Neurosurgery I, Viet Duc University Hospital, Hanoi, Vietnam.; Yen PTH; Department of Radiology, University of Medicine and Pharmacy (VNU-UMP), Vietnam National University, Hanoi, Vietnam.; Loc TQ; Department of Radiology, University of Medicine and Pharmacy (VNU-UMP), Vietnam National University, Hanoi, Vietnam.; Department of Radiology, Viet Duc University Hospital, Hanoi, Vietnam.; Dung LT; Department of Radiology, University of Medicine and Pharmacy (VNU-UMP), Vietnam National University, Hanoi, Vietnam.; Department of Radiology, Viet Duc University Hospital, Hanoi, Vietnam. |
| Source: | Radiology case reports [Radiol Case Rep] 2025 Oct 14; Vol. 21 (1), pp. 199-203. Date of Electronic Publication: 2025 Oct 14 (Print Publication: 2026). |
| Publication Type: | Case Reports; Journal Article |
| Language: | English |
| Journal Info: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101467888 Publication Model: eCollection Cited Medium: Print ISSN: 1930-0433 (Print) Linking ISSN: 19300433 NLM ISO Abbreviation: Radiol Case Rep Subsets: PubMed not MEDLINE |
| Imprint Name(s): | Publication: 2015-: Amsterdam : Elsevier; Original Publication: Seattle, WA : University of Washington, 2006- |
| Abstract: | Pelizaeus-Merzbacher disease (PMD) is a rare disease and can be defined as an X-linked recessive leukodystrophy. This is a progressive and unremitting disorder of myelination that results in serious neurological disability and currently has no specific treatment, causing severe impacts on patients and their families. This report presents a 3-year-1-month-old girl with PMD which had onset at age 2 due to gait disorder. She was detected with abnormalities on magnetic resonance imaging (MRI) and is in the process of finding the cause of the disease. PMD is a rare leukodystrophy with significant clinical implications for affected individuals and their families. Magnetic resonance imaging (MRI) is crucial for the early detection, characterization, diagnosis, and monitoring of leukodystrophies in general, and PMD in particular.; (© 2025 The Authors. Published by Elsevier Inc. on behalf of University of Washington.) |
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| Contributed Indexing: | Keywords: Leukodystrophy; Magnetic resonance imaging; Pelizaeus-Merzacher |
| Entry Date(s): | Date Created: 20251027 Date Completed: 20251027 Latest Revision: 20251029 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC12550707 |
| DOI: | 10.1016/j.radcr.2025.09.059 |
| PMID: | 41142865 |
| Database: | MEDLINE |
Case Reports; Journal Article