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Virtual Pediatric Hospital: Paediapaedia: White Matter Disease Paediapaedia: Neurological Diseases

White Matter Disease

Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed


Clinical Presentation:
Progressive neurologic deterioration.

Etiology/Pathophysiology:
There are three different categories of white matter diseases:

1. Demyelinating disease is due to the destruction of normal myelin and includes multiple sclerosis, acute disseminated encephalomyelitis, progressive multifocal leukoencephalopathy (due to previous malignant or granulomatous disease), and disseminated necrotizing leukodystrophy (due to previous radiation treatment or chemotherapy)

2. Dysmyelinating disease is due to defective myelin production and includes metachromatic leukodystrophy, spongy degeneration, Caravanšs disease, Alexander's disease, Plizaeus-Merzbacher disease, and Cockayne's Syndrome.

3. Diffuse sclerosis contains elements of both demyelination and dysmyelination and includes the adrenoleukodystrophies, and Schilder's disease (sporadic)

Pathology:
Not applicable

Imaging Findings:
Demyelinating disease imaging findings include multiple focal white matter lesions that measure about 10 mm in average diameter and show enhancement on double dose delayed CT with minimal mass effect.

Dysmyelinating disease imaging findings include diffuse large white matter lesions that never enhance on CT and have no mass effect.

Diffuse sclerosis imaging findings include a single focal white matter lesion that averages 20 mm in diameter and may show edge enhancement on CT and some minimal mass effect.

DDX:

References:
See References Chapter.

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