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Updated: Nov 29, 2025
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
CT and MRI findings in infantile vanishing white matter
Kyle Robbins1, Patrick Arraj1, Lauren Dengle Sanchez2
1University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.
Insights
Infantile vanishing white matter disease, a rare cause of developmental delay, was diagnosed in a 6-month-old infant. Molecular analysis confirmed a rare gene mutation, highlighting the importance of genetic testing for this neurological disorder.
Area of Science:
- Pediatric Neurology
- Neurogenetics
- Childhood Developmental Disorders
Background:
- Infantile vanishing white matter disease (VWMD) is a rare, inherited leukoencephalopathy.
- It typically presents in early childhood with progressive neurological decline, including developmental delay and motor deficits.
- Early diagnosis is crucial for management and genetic counseling.
Abstract:
Infantile vanishing white matter disease is an uncommon cause of developmental delay and seizures in children. Presented here is a case of vanishing white matter disease diagnosed at 6 months of age. Imaging findings demonstrated widespread white matter abnormalities throughout the supratentorial and infratentorial brain. The diagnosis of infantile vanishing white matter disease was confirmed via molecular analysis which revealed a rare mutation in the gene responsible for this disorder.
