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Myelin 11

Topic: Imaging

Created on Monday, February 11 2013 by gliageek

Last modified on Monday, February 11 2013.

Courtesy of Dr. Mark Cohen

This young boy developed seizures, motor delay, and megalencephaly in the first year of life, and died 3 years later. Gross examination demonstrated diffuse loss of myelin. The best diagnosis is?

A) Canavan disease

B) Krabbe disease

C) Alexander disease

D) Adrenoleukodystrophy

E) Cockayne disease

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This question was created on February 11, 2013 by gliageek.
This question was last modified on February 11, 2013.

ANSWERS AND EXPLANATIONS

A) Canavan disease

This answer is incorrect.

Although Canavan disease also presents early in life with megalencephaly, the histopathology is characterized by spongiform degeneration of the white matter and Alzheimer's type II astrocytosis in the gray matter. (See References)

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B) Krabbe disease

This answer is incorrect.

Krabbe disease, also known as globoid cell leukodystrophy, is characterized by formation of mononuclear and multinucleated globoid cells in the white matter. (See References)

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C) Alexander disease

This answer is correct.

Alexander diseases characterized by diffuse Rosenthal fiber formation, Which may be secondary to mutations in glial fibrillary acidic protein. (See References)

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D) Adrenoleukodystrophy

This answer is incorrect.

Adrenoleukodystrophy is characterized by the presence of perivascular lymphocytic infiltrates associated with diffuse loss of myelin. (See References)

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E) Cockayne disease

This answer is incorrect.

Cockayne disease is characterized by patchy myelin loss, basal ganglia calcifications, and fibrous thickening of the leptomeninges. (See References)

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References:

1. Prust, M., Wang, J., Morizono, H., Messing, A., Brenner, M., Gordon, E., Hartka, T., Sokohl, A., Schiffmann, R., Gordish-Dressman, H., Albin, R., Amartino, H., Brockman, K., Dinopoulos, A., Dotti, M.T., Fain, D., Fernandez, R., Ferreira, J., Fleming, J., Gill, D., Griebel, M., Heilstedt, H., Kaplan, P., Lewis, D., Nakagawa, M., Pedersen, R., Reddy, A., Sawaishi, Y., Schneider, M., Sherr, E., Takiyama, Y., Wakabayashi, K., Gorospe, J.R., and Vanderver, A. (2011). "GFAP mutations, age at onset, and clinical subtypes in Alexander disease." Neurology, 77(13) 1287-94. (PMID:21917775)

2. Perlman, S.J., and Mar, S. (2012). "Leukodystrophies." Adv Exp Med Biol, 724 154-71. (PMID:22411242)

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imaging
Myelin 11
Question ID: 021113132
Question written by gliageek. (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 02/11/2013
Modified: 02/11/2013
Estimated Permutations: 120