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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, cognitive and/or motor regression, and progressive blindness.  Skin biopsy shows intracellular accumulations of material that autofluoresces with a yellow-green color.

What is the inheritance pattern of this disorder?


 
        A) Autosomal dominant
 
        B) X-linked dominant
 
        C) X-linked recessive
 
        D) Trinucleotide repeat
 
        E) Autosomal recessive
 

 


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This question was created on October 18, 2007 by jdmiles.
This question was last modified on October 18, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) 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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B) 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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C) 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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D) trinucleotide repeat

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) 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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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)
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

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