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Inborn Errors of Metabolism 04

Topic: Pediatric

Created on Thursday, November 29 2007 by jdmiles

Last modified on Thursday, November 29 2007.

A 6 month old child is admitted to the hospital with sepsis. The pediatric resident notices a seizure, and calls a neurology consult.

The patient's mother states that the patient's birth was normal except for hypothermia. Over the ensuing months, the child became hypotonic, and developed poor feeding.

Exam reveals a floppy baby with a low temperature, cherubic facies, and friable, kinky hair.

The lumbar puncture is normal.

Which of the following statements about this disorder is most accurate?


 
        A) This disorder is associated with a defect on chromosome 19
 
        B) Kayser-Fleischer rings will develop as this child ages
 
        C) This disorder is due to a ceruloplasmin deficiency
 
        D) This is trichopoliodystrophy
 
        E) Treatment involves chelating agents
 

 


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This question was created on November 29, 2007 by jdmiles.
This question was last modified on November 29, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) This disorder is associated with a defect on chromosome 19

This answer is incorrect.


This clinical history and exam are compatible with Menke's kinky hair syndrome, also called trichopoliodystrophy. This is an X-linked disorder associated with a copper ATPase deficiency.  (See References)

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B) Kayser-Fleischer rings will develop as this child ages

This answer is incorrect.


This clinical history and exam are compatible with Menke's kinky hair syndrome, also called trichopoliodystrophy. This is an X-linked disorder associated with a copper ATPase deficiency.

Kayser-Fleischer rings are specific to Wilson disease.

  (See References)

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C) This disorder is due to a ceruloplasmin deficiency

This answer is incorrect.


This clinical history and exam are compatible with Menke's kinky hair syndrome, also called trichopoliodystrophy. This is an X-linked disorder associated with a copper ATPase deficiency.  (See References)

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D) This is trichopoliodystrophy

This answer is correct.


This clinical history and exam are compatible with Menke's kinky hair syndrome, also called trichopoliodystrophy. This is an X-linked disorder associated with a copper ATPase deficiency. Treatment is with copper histidine.  (See References)

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E) Treatment involves chelating agents

This answer is incorrect.


This clinical history and exam are compatible with Menke's kinky hair syndrome, also called trichopoliodystrophy. This is an X-linked disorder associated with a copper ATPase deficiency. Treatment is with copper histidine.  (See References)

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References:

1. Santos, C.C., Miller, V.S., and Roach, E.S. (2004). Neurocutaneous syndromes. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia, pp. 1867-1900 (ISBN:0750674695).Advertising:
2. James D. Geyer, Janice M. Keating, Daniel C. Potts. . Philadelphia : Lippincott William & Wilkins, c2002. (ISBN:0781737192)Advertising:
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pediatric
Inborn Errors of Metabolism 04
Question ID: 112907037
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 11/29/2007
Modified: 11/29/2007
Estimated Permutations: 126000

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