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 epilepsy, progressive blindness, and cognitive and/or motor regression. Skin biopsy shows intracellular accumulations of material that autofluoresces with a yellow-green color.
What is the inheritance pattern of this disorder?
A) Autosomal recessive B) X-linked recessive C) Autosomal dominant D) X-linked dominant E) Chromosomal trisomy
This question was created on October 18, 2007 by jdmiles.
This question was last modified on October 18, 2007.
ANSWERS AND EXPLANATIONS
A) 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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B) 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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C) 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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D) 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)
|
| | |
| | |
Please log in if you want to rate questions. |
E) 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)
|
| | |
| | |
Please log in if you want to rate questions. |
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