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Leukodystrophies 01

Topic: Imaging

Created on Saturday, December 8 2007 by jdmiles

Last modified on Saturday, December 8 2007.

During the workup of a child with a developmental delay, you obtain the above MRI. This image is most consistent with which of the following diagnoses?


 
        A) Krabbe disease
 
        B) Alexander disease
 
        C) Leigh disease
 
        D) Adrenoleukodystrophy
 
        E) Pelizaeus-Merzbacher syndrome
 

 


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This question was created on December 08, 2007 by jdmiles.
This question was last modified on December 08, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Krabbe disease

This answer is incorrect.


In Krabbe disease, the initial lesions to appear hyperintense on MRI tend to be in the basal ganglia and periventricular white matter, and appear symmetric. Subcortical U fibers are spared until late in the disease. The frontal white matter does not tend to be preferentially affected, as it is in the image shown.

  (See References)

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B) Alexander disease

This answer is correct.


The findings in this MRI are typical for Alexander disease. MRI criteria for the diagnosis of Alexander disease include:

  1. Extensive, frontally-predominant cerebral white matter changes
  2. A periventricular rim which is bright on T1 and dark on T2
  3. Brainstem abnormalities
  4. Abnormalities of hte basal ganglia and thalami
  5. Contrast enhancement of particular gray and white matter structures.
Four of 5 criteria should be met to make the diagnosis based on imaging.   (See References)

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C) Leigh disease

This answer is incorrect.


Leigh disease does not often affect the cerebral white matter. Demyelination in Leigh disease occurs in the caudate, globus pallidus, and brainstem.   (See References)

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D) Adrenoleukodystrophy

This answer is incorrect.


Adrenoleukodystrophy typically has a characteristic pattern on MRI, in which the occipital and parietal white matter is affected first. As the disease progresses, the leukodystrophy moves anteriorly and caudally. There are atypical cases in which the anterior white matter is affected first; however, classically, the initial demyelination occurs in peritrigonal areas.   (See References)

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E) Pelizaeus-Merzbacher syndrome

This answer is incorrect.


The characteristic MRI findings in Pelizaeus-Merzbacher disease include a paucity of normal white matter, early involvement of the subcortical U fibers, and early involvement of hte internal capsule. Scattered foci of normal signal intensity sometimes are seen in the white matter, giving it a "tigroid" appearance. This image is not characteristic of Pelizaeus-Merzbacher syndrome.   (See References)

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References:

1. Fenichel, G.M. (2005). Clinical Pediatric Neurology, 5th ed. Elsevier, Philadelphia.
2. Robert I. Grossman, David M. Yousem. Neuroradiology: the requisites. Philadelphia, Pa. : Mosby, c2003. (ISBN:978032300508X) Advertising:
3. Sklar, E.M.L., Ruiz, A., Quencer, R.M., and Falcone, S.F. (2004). Structural neuroimaging. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia, pp. 521-597 (ISBN:0750674695). Advertising:
4. Cheon, J., Kim, I., Hwang, Y.S., Kim, K.J., Wang, K., Cho, B., Chi, J.G., Kim, C.J., Kim, W.S., and Yeon, K.M. (2002). "Leukodystrophy in children: a pictorial review of MR imaging features." Radiographics, 22(3) 461-76. (PMID:12006681)
5. Magnaldi, S. (1991). "[Leukodystrophies: clinical aspects and findings with computerized tomography and magnetic resonance imaging]" Radiol Med (Torino), 82(1-2) 13-26. (PMID:1896564)
6. van der Knaap, M.S., Naidu, S., Breiter, S.N., Blaser, S., Stroink, H., Springer, S., Begeer, J.C., van Coster, R., Barth, P.G., Thomas, N.H., Valk, J., and Powers, J.M. (2001). "Alexander disease: diagnosis with MR imaging." AJNR Am J Neuroradiol, 22(3) 541-52. (PMID:11237983)
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imaging
Leukodystrophies 01
Question ID: 101207183
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 12/08/2007
Modified: 12/08/2007
Estimated Permutations: 8400

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