Ceroid Lipofuscinoses 02
Topic: Pediatric
Created on Thursday, October 18 2007 by jdmiles
Last modified on Thursday, October 18 2007.
A child presents to your clinic with a history of cognitive and/or motor regression, progressive blindness, and epilepsy. Skin biopsy shows intracellular accumulations of material that autofluoresces with a yellow-green color.
What is the inheritance pattern of this disorder?
A) X-linked recessive B) Chromosomal trisomy C) Autosomal recessive D) Autosomal dominant E) X-linked dominant
This question was created on October 18, 2007 by jdmiles.
This question was last modified on October 18, 2007.
ANSWERS AND EXPLANATIONS
A) X-linked recessive
This answer is incorrect.
The neuronal ceroid lipofuscinoses (also called Batten disease) are characterized by progressive blindness, congitive/motor regression, epilepsy, and intracellular accumulation of autofluorescent material.
All of these disorders are inherited, with an autosomal recessive pattern.
(
See References)
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B) chromosomal trisomy
This answer is incorrect.
The neuronal ceroid lipofuscinoses (also called Batten disease) are characterized by progressive blindness, congitive/motor regression, epilepsy, and intracellular accumulation of autofluorescent material.
All of these disorders are inherited, with an autosomal recessive pattern.
(
See References)
|
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C) autosomal recessive
This answer is correct.
The neuronal ceroid lipofuscinoses (also called Batten disease) are characterized by progressive blindness, congitive/motor regression, epilepsy, and intracellular accumulation of autofluorescent material.
All of these disorders are inherited, with an autosomal recessive pattern.
(
See References)
|
 |  |  |
|  |  |
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D) autosomal dominant
This answer is incorrect.
The neuronal ceroid lipofuscinoses (also called Batten disease) are characterized by progressive blindness, congitive/motor regression, epilepsy, and intracellular accumulation of autofluorescent material.
All of these disorders are inherited, with an autosomal recessive pattern.
(
See References)
|
 |  |  |
|  |  |
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E) X-linked dominant
This answer is incorrect.
The neuronal ceroid lipofuscinoses (also called Batten disease) are characterized by progressive blindness, congitive/motor regression, epilepsy, and intracellular accumulation of autofluorescent material.
All of these disorders are inherited, with an autosomal recessive pattern.
(
See References)
|
 |  |  |
|  |  |
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References:
1. Mitchison, H.M., and Mole, S.E. (2001). "Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease)." Curr Opin Neurol, 14(6) 795-803. (PMID:11723391)
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2. Wisniewski, K.E., Zhong, N., and Philippart, M. (2001). "Pheno/genotypic correlations of neuronal ceroid lipofuscinoses." Neurology, 57(4) 576-81. (PMID:11548735)
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pediatric
Ceroid Lipofuscinoses 02
Question ID: 101807113
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 10/18/2007
Modified: 10/18/2007
Estimated Permutations: 1800