ArticleJournal of neurology2018
Similarities and differences between infantile and early childhood onset vanishing white matter disease.
Article in Journal of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 9 citations in OpenAlex.
- Inpatient Deaths in Pediatric Leukodystrophies.Annals of the Child Neurology Society · 2026Article
- An atypical initial revelation of CACH-vanishing white matter syndrome miming herpetic encephalitis in a 6-year-old child: Case report and brief review.Radiology case reports · 2025Article
- Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review.Cureus · 2024Article
- EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report.Italian journal of pediatrics · 2022Article
- Article
- Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A Single Center Experience from Southern India.Journal of pediatric genetics · 2021Article
- CT and MRI findings in infantile vanishing white matter.Radiology case reports · 2021Article
- X-Linked Thrombocytopenia and Vanishing White Matter Disease in a Child: Double Tragedy.Journal of clinical immunology · 2020Article
- Vanishing white matter disease with different faces.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Vanishing white matter disease (VWM) is one of the most prevalent inherited leukoencephalopathies in childhood. Infantile VWM is more severe but less understood than the classic early childhood type. We performed a follow-up study on 14 infantile and 26 childhood patients to delineate the natural history and neuroimaging features of VWM. Infantile and childhood patients shared similarities in the incidence of epileptic seizure (35.7 vs. 38.5%) and episodic aggravation (92.9 vs. 84.6%). Developmental delay before disease onset was more common in infantile patients. Motor disability was earlier and more severe in infantile VWM. In survivors with disease durations of 1-3 years, the Gross Motor Function Classification System (GMFCS) was classified as IV-V in 66.7% of infantile and only 29.4% of childhood patients. Kaplan-Meier survival curve analysis indicated that the 5-year survival rates were 21.6 and 91.3% in infantile and childhood VWM, respectively. In terms of MRI, infantile patients showed more extensive involvement and earlier rarefaction, with more common involvement of subcortical white matter, internal capsule, brain stem and dentate nuclei of the cerebellum. Restricted diffusion was more diffuse or extensive in infantile patients. In addition, four novel mutations were identified. In conclusion, we identified some similarities and differences in the natural history and neuroimaging features between infantile and early childhood VWM.
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