Division of Pediatric Neurology
Image of the Week - Week 1

  Image of the Week
  Week 1 line
  Week 2

 

 

 

 

 

COMMENTS

Arthur - congratulations on setting up a very important part of our training!  This was a fabulous idea and I want to commend you on setting "image of the week" into motion!    You also picked a very tricky case for the first week! 

Cheers,

Karen

GREAT.  Ionnis and I discussed this last week. I think this will be great. 

Laurie

Vanishing white matter disease of childhood is one possibility.

Karl

 
 

IOTW

3 yr old white male who presents with 2 day history of fever, irritability and decreased strength in all extremities on examination.

Please e-mail me with any comments, suggestions, diagnosis, etc. These comments will be posted at the end of each week.

Source of image will be acknowledged when answer is provided

 

The image shown is a classic MRI finding of the VANISHING WHITE MATER DISEASE.

It is an autosomal recessive disease that occurs exclusively in Caucasians. This is due to a mutation of the gene coding for the eif2b complex (1-5). This complex initiates translation of proteins in the body and regulates cell response to stress.

Onset of disease is usually in early childhood though onset varies from 1yr-30yrs. Manifests with chronic episodic motor deterioration usually after head trauma or infection, slowly progressive ataxia which is followed by spasticity. Variable optic atrophy and mild seizure disorder when present. Also can present with irritability, vomiting, depressed consciousness and coma requiring artificial ventilation. Also adults and adolescents can present with psychiatric disturbances.

The MRI shows a melting away pattern of the white mater, leaving intervening strands of radiating tissue.

 

References:

  1. Jan C. Pronk et al : Vanishing white matter disease; A review with focus on its genetics
  2. image courtesy of  Peter A.J Leegwater et al: Leukoencephalopathy with vanishing white matter : From magnetic resonance imaging pattern to five genes