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A new leukoencephalopathy with vanishing white matter
M S van der Knaap1, P G Barth, F J Gabreëls
1Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands.
Neurology
|April 1, 1997
Summary
This study describes a rare childhood leukoencephalopathy affecting white matter. Advanced stages show severe white matter degeneration, suggesting an autosomal recessive disorder.
Area of Science:
- Neurology
- Neuroimaging
- Genetics
Background:
- Leukoencephalopathies are a group of white matter disorders affecting the brain.
- Identifying new leukoencephalopathies is crucial for understanding neurological diseases.
Purpose of the Study:
- To characterize a novel leukoencephalopathy identified in nine children.
- To investigate the clinical, imaging, and pathological features of this condition.
Main Methods:
- Clinical assessment and magnetic resonance imaging (MRI) were performed on nine patients.
- Magnetic resonance spectroscopy (MRS) and autopsy were utilized in select cases.
Main Results:
- Nine children presented with a similar leukoencephalopathy, with three affected sibling pairs.
- MRI revealed diffuse cerebral hemispheric leukoencephalopathy, with white matter signal intensity mimicking cerebrospinal fluid (CSF) in advanced stages.
- MRS showed near-complete white matter signal loss and presence of lactate and glucose, indicating severe degeneration. Autopsy confirmed cystic degeneration of white matter and pontine tegmental involvement.
Conclusions:
- The described leukoencephalopathy presents in childhood with chronic-progressive or episodic courses, often triggered by infections or trauma.
- The findings suggest an autosomal recessive inheritance pattern, though the underlying metabolic defect remains unknown.