Vanishing white matter disease
- Amy T Waldman, MD
Amy T Waldman, MD
- Assistant Professor of Child Neurology
- Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine
- Alan K Percy, MD
Alan K Percy, MD
- Professor of Pediatrics, Neurology, Neurobiology, and Genetics
- University of Alabama at Birmingham
- Section Editors
- Francisco Gonzalez-Scarano, MD
Francisco Gonzalez-Scarano, MD
- Section Editor — Multiple Sclerosis, Neurovirology & NeuroAIDS
- John P. Howe, III, MD, Distinguished Chair in Health Policy
- The University of Texas Health Science Center at San Antonio
- Marc C Patterson, MD, FRACP
Marc C Patterson, MD, FRACP
- Section Editor — Pediatric Neurology
- Professor of Neurology, Pediatrics, and Medical Genetics
- Chair, Division of Child and Adolescent Neurology
- Mayo Clinic College of Medicine
INTRODUCTION AND HISTORY
Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination, leukoencephalopathy with vanishing white matter, and Cree leukoencephalopathy, is a chronic and progressive white matter disorder, often exacerbated by infection or head trauma.
Scattered neuropathologic case reports beginning in the 1960s were the earliest descriptions of the disease [1-8]. In 1988, a study from Canada described a severe infantile leukodystrophy in three Cree Indian villages termed "Cree leukoencephalopathy" , a condition that is now recognized as a phenotypic variant of VWM . However, VWM was not recognized as a clinical syndrome until the 1990s.
●A 1993 study from Germany described three children with normal early development who rapidly declined with progressive ataxia and spasticity, followed later by bulbar symptoms, optic atrophy, and seizures; brain magnetic resonance imaging (MRI) showed a diffuse hypodensity of the white matter similar to the signal of the ventricles .
●A 1994 report from the United States described four unrelated patients with progressive ataxic diplegia that was named "childhood ataxia with diffuse central nervous system hypomyelination" .
●In 1997, a study from the Netherlands described a cohort of nine children, including three affected sibling pairs, who had similar clinical, radiographic, and pathologic characteristics and were diagnosed with a "new leukoencephalopathy with vanishing white matter" .
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- INTRODUCTION AND HISTORY
- CLINICAL FEATURES
- Early childhood
- Late childhood/juvenile
- Headache and hemibody symptoms
- Genotype-phenotype correlations
- MRI criteria
- Genetic testing
- Laboratory testing
- Differential diagnosis
- SUMMARY AND RECOMMENDATIONS