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Acanthocytes 01

Topic: Pediatric

Created on Sunday, November 9 2008 by jdmiles

Last modified on Sunday, November 9 2008.

A patient presents with chorea. Acanthocytes are found on her blood smear.
This is most consistent with which one of the following diagnoses?

 
        A) Neuroacanthocytosis
 
        B) Hypobetalipoproteinemia
 
        C) Bassen-Kornzweig syndrome
 
        D) Fabry disease
 
        E) Huntington disease
 

 


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This question was created on November 09, 2008 by jdmiles.
This question was last modified on November 09, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Neuroacanthocytosis

This answer is correct.


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.  (See References)

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B) Hypobetalipoproteinemia

This answer is incorrect.


Like abetalipoproteinemia, hypobetalipoproteinemia is characterized by neuropathy, ataxia, and acanthocytosis. A hyperkinetic movement disorder is not typical.  (See References)

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C) Bassen-Kornzweig syndrome

This answer is incorrect.


Abetalipoproteinemia, also called Bassen-Kornzweig syndrome, is a genetic disease with neurologic findings. The presence of acanthocytes in the blood is characteristic of abetalipoproteinemia. However, a hyperkinetic movement disorder is not part of the typical presentation of abetalipoproteinemia. Neuropathy and ataxia are the classic neurologic manifestations of this disease.  (See References)

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D) Fabry disease

This answer is incorrect.


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

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E) Huntington 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)Advertising:
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pediatric
Acanthocytes 01
Question ID: 110908140
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 11/09/2008
Modified: 11/09/2008
Estimated Permutations: 360

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