Main Logo
Logo

Society for Pediatric Radiology – Poster Archive

  167
  0
  0
 
 


Final ID: Poster #: CR-024

Don’t Forget about Juvenile Alexander Disease: Two Cases of a Rare, Masquerading Leukodystrophy

Purpose or Case Report: The purpose of our case series is to review the imaging, clinical, and pathologic findings of two adolescent patients that presented to our medical center who were ultimately found to have the juvenile/young adult (Prust Type II) form of Alexander Disease.

The first patient was an eleven year old male with presumed conversion disorder who was transferred from a pediatric residental mental health clinic after a suspected aspiration event. The parents reported that the patient had difficulty swallowing for years, that had worsening significantly over the preceding six months. A non-enhanced head CT was performed shortly after the patient was admitted due to a change in mental status, which revealed a focal abnormality at the cervicomedullary junction. Subsequent assessment with MRI confirmed the lesion, which demonstrated corresponding T2/FLAIR signal hyperintensity and enhancement, with the presumptive initial diagnosis of a cervicomedullary tumor. The patient was biopsied at an outside institution, and was diagnosed with Alexander Disease by that institution.

The second patient was a twelve year old male with history of cleidocranial dysplasia, in which extensive signal abnormality and enhancement was first identified throughout the posterior fossa structures on an outpatient MRI of brain obtained for paroxysmal episodes of dizziness. A small amount of signal abnormality in the periventricular white matter was also present. The patient was initially worked up and treated for a neuroinflammatory disorder, and a biopsy was performed when there was further worsening of the patient’s symptoms. A mutation in the patient's GFAP gene was subsequently identified of “uncertain significance”.

Juvenile/young adult (Prust Type II) Alexander Disease is a rare leukodystrophy, which is associated with a different set of imaging characteristics compared with the more classic infantile/juvenile (Prust Type I) form. Radiologists who regularly interpret pediatric neuroimaging studies should be aware of its existence and its spectrum of associated imaging findings, in the interest of both arriving at the correct diagnosis and in avoiding unnecessary brain biopsy.
Methods & Materials:
Results:
Conclusions:
  • Vorona, Gregory  ( Virginia Commonwealth University Health System , Richmond , Virginia , United States )
  • Mahdi, Eman  ( Virginia Commonwealth University Health System , Richmond , Virginia , United States )
  • Ritter, Ann  ( Virginia Commonwealth University Health System , Richmond , Virginia , United States )
  • Henry, Chrisopher  ( Virginia Commonwealth University Health System , Richmond , Virginia , United States )
  • Rao, Sanjai  ( Virginia Commonwealth University Health System , Richmond , Virginia , United States )
  • Richard, Hope  ( Virginia Commonwealth University Health System , Richmond , Virginia , United States )
  • Urbine, Jacqueline  ( Virginia Commonwealth University Health System , Richmond , Virginia , United States )
Session Info:

Posters - Case Report

Neuroradiology

SPR Posters - Case Reports

More abstracts from these authors:
More Than Just Suprasellar and Pineal Region Masses: A Review of Imaging Findings Associated with Intracranial Germ Cell Tumors

Aviado Randy, Vorona Gregory, Tye Gary, Ritter Ann, Wang Zhihong, Mahdi Eman, Mishra Chakradhar, Jones Kathryn, Urbine Jacqueline

Neuroblastoma Beyond the Norm: Unusual Intracranial and Ectopic Discoveries

Blundo Gianna, Jones Kathryn, Mishra Chakradhar, Vorona Gregory, Hinh Lylie, Mahdi Eman, Wang Zhihong, Tye Gary, Ritter Ann, Petersson Rajanya, Richard Hope, Al-samarraie Mohannad

Preview
Poster____CR-024.pdf
You have to be authorized to contact abstract author. Please, Login or Signup.

Please note that this is a separate login, not connected with your credentials used for the SPR main website.

Not Available

Comments

We encourage you to join the discussion by posting your comments and questions below.

Presenters will be notified of your post so that they can respond as appropriate.

This discussion platform is provided to foster engagement, and stimulate conversation and knowledge sharing.

Please click here to review the full terms and conditions for engaging in the discussion, including refraining from product promotion and non-constructive feedback.

 

You have to be authorized to post a comment. Please, Login or Signup.

Please note that this is a separate login, not connected with your credentials used for the SPR main website.


   Rate this abstract  (Maximum characters: 500)