Ceroid Lipofuscinoses 01

Topic: Pediatric

Created on Thursday, October 18 2007 by jdmiles

Last modified on Thursday, October 18 2007.

 
        A) Intracellular accumulation of autofluorescent material, cognitive and/or motor regression, epilepsy, and progressive blindness
 
        B) Cognitive and/or motor regression, intracellular accumulation of non-fluorescent material, epilepsy, and progressive deafness
 
        C) Progressive blindness, epilepsy, cognitive and/or motor regression, and intracellular accumulation of non-fluorescent material
 
        D) Ataxia, progressive blindness, intracellular accumulation of autofluorescent material, and cognitive and/or motor regression
 
        E) Intracellular accumulation of autofluorescent material, progressive ataxia, peripheral neuropathy, and cognitive and/or motor regression
 

 

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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

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A) intracellular accumulation of autofluorescent material, cognitive and/or motor regression, epilepsy, and progressive blindness

This answer is correct.

Typical features that are shared among the neuronal ceroid lipofuscinoses (also called Batten disease) are progressive blindness, congitive/motor regression, epilepsy, and intracellular accumulation of autofluorescent material.

Not all patients present with all of these features.

  (See References)

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B) cognitive and/or motor regression, intracellular accumulation of non-fluorescent material, epilepsy, and progressive deafness

This answer is incorrect.

Typical features that are shared among the neuronal ceroid lipofuscinoses (also called Batten disease) are progressive blindness, congitive/motor regression, epilepsy, and intracellular accumulation of autofluorescent material.

Not all patients present with all of these features.

  (See References)

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---

C) progressive blindness, epilepsy, cognitive and/or motor regression, and intracellular accumulation of non-fluorescent material

This answer is incorrect.

Typical features that are shared among the neuronal ceroid lipofuscinoses (also called Batten disease) are progressive blindness, congitive/motor regression, epilepsy, and intracellular accumulation of autofluorescent material.

Not all patients present with all of these features.

  (See References)

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---

D) ataxia, progressive blindness, intracellular accumulation of autofluorescent material, and cognitive and/or motor regression

This answer is incorrect.

Typical features that are shared among the neuronal ceroid lipofucsinoses (also called Batten disease) are progressive blindness, congitive/motor regression, epilepsy, and intracellular accumulation of autofluorescent material.

Not all patients present with all of these features.

  (See References)

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---

E) intracellular accumulation of autofluorescent material, progressive ataxia, peripheral neuropathy, and cognitive and/or motor regression

This answer is incorrect.

Typical features that are shared among the neuronal ceroid lipofuscinoses (also called Batten disease) are progressive blindness, congitive/motor regression, epilepsy, and intracellular accumulation of autofluorescent material.

Not all patients present with all of these features.

  (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 01
Question ID: 101807115
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 10/18/2007
Modified: 10/18/2007
Estimated Permutations: 1800