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Myelin 05

Topic: Pathology

Created on Sunday, February 15 2009 by gliageek

Last modified on Sunday, February 15 2009.

Courtesy of Dr. Mark Cohen

This 12 year old boy was normal until age 3, when he developed progressive ataxia and spasticity. MRI demonstrated diffuse cavitation of cerebral white matter with high signal intensity in cerebellar and brainstem white matter. The best diagnosis is:

A) Krabbe disease

B) Aicardi-Goutieres leukoencephalopathy

C) Familial myoclonic epilepsy

D) Anderson disease (GSD, type IV)

E) Vanishing white matter disease

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This question was created on February 15, 2009 by gliageek.
This question was last modified on February 15, 2009.

ANSWERS AND EXPLANATIONS

A) Krabbe disease

This answer is incorrect.

The foamy oligodendroglial cells seen in VWMD are distinct from the often multinucleate cells of globoid cell leukodystrophy (See References)


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B) Aicardi-Goutieres leukoencephalopathy

This answer is incorrect.

A-G leukoencephalopathy includes diffuse calcification of white matter and basal ganglia, and generally manifests within the first few months of life (See References)


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C) Familial myoclonic epilepsy

This answer is incorrect.

Lafora bodies are seen within the cytoplasm of neurons, not in white matter (See References)


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D) Anderson disease (GSD, type IV)

This answer is incorrect.

Deficiency of brancher enzyme may result in accumulation of glycogen within neurons and glial cells, but is not primarily a white matter disorder (See References)


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E) Vanishing white matter disease

This answer is correct.

Combination of clinical history, MRI, and pathologic features are typical of this disease, which results from mutations involving subunits of eukaryocytic initiation factor 2B (See References)


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References:

1. Love, S., Louis, D.N., and Ellison, D.W. (2008). Greenfield's Neuropathology, 8th Edition. Oxford University Press, USA (ISBN:0340906820)

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pathology
Myelin 05
Question ID: 021509090
Question written by gliageek. (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 02/15/2009
Modified: 02/15/2009
Estimated Permutations: 120