Acanthocytes 02

Topic: Pediatric

Created on Monday, November 10 2008 by jdmiles

Last modified on Monday, November 10 2008.

 
        A) Huntington disease
 
        B) Chorea-acanthocytosis
 
        C) Refsum disease
 
        D) Hypobetalipoproteinemia
 
        E) Fabry disease
 

 

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This question was created on November 10, 2008 by jdmiles.
This question was last modified on November 10, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) Huntington disease

This answer is incorrect.

Acanthocytosis is not a characteristic feature of this disorder.  (See References)

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B) chorea-acanthocytosis

This answer is incorrect.

Neuroacanthocytosis, also called Levine-Critchley syndrome or chorea-acanthocytosis, is a multisystem neurodegenerative disorder.
Characteristic features of this disorder are the presence of acanthocytes in the blood, and a hyperkinetic movement disorder. Neuropathy, ataxia, and steatorrhea with acanthocytosis should make you think of abetalipoproteinemia or hypobetalipoproteinemia.  (See References)

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C) Refsum disease

This answer is incorrect.

Acanthocytosis is not a characteristic feature of this disorder.  (See References)

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D) hypobetalipoproteinemia

This answer is correct.

Hypobetalipoproteinemia is a disorder similar in presentation to abetalipoproteinemia or Bassen-Kornzweig syndrome. Both are genetic diseases with neurologic findings. They are characterized by acanthocytosis, neuropathy and ataxia.  (See References)

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E) Fabry disease

This answer is incorrect.

Acanthocytosis is not a characteristic feature of this disorder.  (See References)

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References:

1. Rowland, L.P. (Ed) (2000). Merritt's Neurology, 10th Edition. Lippincott Williams & Wilkins, Philadelphia. (ISBN:0683304747)

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pediatric
Acanthocytes 02
Question ID: 111008036
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 11/10/2008
Modified: 11/10/2008
Estimated Permutations: 360