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Myelin 12

Topic: Imaging

Created on Monday, February 25 2013 by gliageek

Last modified on Monday, February 25 2013.

Courtesy of Dr. Mark Cohen

This unfortunate young boy died when he was 8 years old. Gross examination demonstrated diffuse cerebral myelin loss. His parents have just found out they are pregnant, and that the fetus is female. What is the likelihood that she will also develop white matter degeneration?

A) Zero

B) 50%

C) 25%

D) 75%

E) 100%

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This question was created on February 25, 2013 by gliageek.
This question was last modified on February 25, 2013.

ANSWERS AND EXPLANATIONS

A) Zero

This answer is correct.

The pathological features are consistent with juvenile onset adrenoleukodystrophy, which is an X-linked disorder. In the absence of additional chromosomal abnormalities (XO), the chance of his sister developing the same disease is negligible. (See References)

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B) 50%

This answer is incorrect.

A 50% risk is characteristic of autosomal dominant disorders, although these diseases often demonstrate variable expression and penetrance. (See References)

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C) 25%

This answer is incorrect.

Autosomal recessive leukodystrophies, such as metachromatic leukodystrophy and globoid cell leukodystrophy/Krabbe disease would be expected in approximately 25% of offspring regardless of sex. (See References)

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D) 75%

This answer is incorrect.

Greater than 50% risks are rarely encountered, but may be seen in male siblings of probands with diseases encoded by mitochondrial DNA (See References)

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E) 100%

This answer is incorrect.

Nobody can be this unlucky (See References)

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References:

1. Poll-The, B.T., and Engelen, M. (2012). "Peroxisomal leukoencephalopathy." Semin Neurol, 32(1) 42-50. (PMID:22422205)

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imaging
Myelin 12
Question ID: 022513107
Question written by gliageek. (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 02/25/2013
Modified: 02/25/2013
Estimated Permutations: 120