Hallervorden-Spatz disease (HSD)

  • Rare disorder characterized by progressive extrapyramidal dysfunction and dementia
  • Familial brain degeneration characterized by iron deposition in the brain.

Etiology:  mutation in the pantothenate kinase (PANK2) gene on band 20p13 has been described in patients with HSD. (See Etiology.)[10]

Other names:

  • NBIA-1 or neurodegeneration with brain iron accumulation type 1
  • pantethenate kinase-associated neurodegeneration

 

Typical MRI findings:  “eye of the tiger” sign

  1. GLIOSIS / DEMYELINATION:  bilateral, symmetric, hyperintensities in anterior medial globus pallidus
  2. IRON DEPOSITION:  hypointensity surrounds globus pallidus on T2-weighted images

 

Presentation:
  • onset in childhood / adolescence
  • progressive dementia, spasticity, rigidity, dystonia, choreoathetosis
  • progresses over 10 years
  • death in 20s or 30s

29718

 

 

References

Emedicine.medscape.com,. “Hallervorden-Spatz Disease: Background, Etiology, Prognosis”. N.p., 2016. Web. 13 Feb. 2016.

 

Advertisements

Tagged: , ,

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

%d bloggers like this: