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Cerebrovascular Disease 02

Topic: Adult

Created on Saturday, October 27 2007 by jdmiles

Last modified on Saturday, October 27 2007.

A 45 year old male presents with a sudden onset of left upper extremity weakness and numbness. Past medical hisotry is significant for migraines. His exam reveals only the above described weakness. His father and paternal grandmother also had migraines and died at young ages after after a progressive dementia and multiple strokes.

MRI of the patient's brain reveals multiple areas of hyperintensity in the white matter. On diffusion weighted imaging, there is a region of diffusion restriction which involves the right internal capsule.

The patient is admitted to telemetry, where his EKG remains in sinus rhythm for the three days he is monitored. Transesophageal echocardiogram shows no cardiac source of emboli. Gadolinium bolus angiogram shows patent vasculature from the aortic arch to the intracranial vessels. Carotid dopplers reveal minimal stenosis. PT, PTT, and INR are within normal limits.

Given this patient's history and workup, which of the following tests is most likely to be diagnostic?


 
        A) RPR
 
        B) Notch 3 assay
 
        C) Alpha-fetoprotein
 
        D) Serum toxicology screen
 
        E) Antithrombin III
 

 


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This question was created on October 27, 2007 by jdmiles.
This question was last modified on October 27, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) RPR

This answer is incorrect.


This patient's history and workup are consistent with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This is an inherited disorder which presents with migraines and with strokes at early age. Patients typically develop cognitive decline and develop a subcortical dementia, progressing to death within 20 years.

CADASIL has been linked to a defect in the gene coding for the transmembrane receptor Notch 3.

  (See References)

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B) Notch 3 assay

This answer is correct.


This patient's history and workup are consistent with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This is an inherited disorder which presents with migraines and with strokes at early age. Patients typically develop cognitive decline and develop a subcortical dementia, progressing to death within 20 years.

CADASIL has been linked to a defect in the gene coding for the transmembrane receptor Notch 3.

  (See References)

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C) alpha-fetoprotein

This answer is incorrect.


This patient's history and workup are consistent with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This is an inherited disorder which presents with migraines and with strokes at early age. Patients typically develop cognitive decline and develop a subcortical dementia, progressing to death within 20 years.

CADASIL has been linked to a defect in the gene coding for the transmembrane receptor Notch 3.

  (See References)

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D) serum toxicology screen

This answer is incorrect.


This patient's history and workup are consistent with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This is an inherited disorder which presents with migraines and with strokes at early age. Patients typically develop cognitive decline and develop a subcortical dementia, progressing to death within 20 years.

CADASIL has been linked to a defect in the gene coding for the transmembrane receptor Notch 3.

  (See References)

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E) Antithrombin III

This answer is incorrect.


This patient's history and workup are consistent with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This is an inherited disorder which presents with migraines and with strokes at early age. Patients typically develop cognitive decline and develop a subcortical dementia, progressing to death within 20 years.

CADASIL has been linked to a defect in the gene coding for the transmembrane receptor Notch 3.

  (See References)

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References:

1. Robert I. Grossman, David M. Yousem. Neuroradiology: the requisites. Philadelphia, Pa. : Mosby, c2003. (ISBN:032300508X)Advertising:
2. Biller, J., and Love, B.B. (2004). Ischemic cerebrovascular disease. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia, pp. 1197-1249 (ISBN:0750674695).Advertising:
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adult
Cerebrovascular Disease 02
Question ID: 102707196
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 10/27/2007
Modified: 10/27/2007
Estimated Permutations: 39600

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