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Joseph Junewick, MD FACR
over 4 years ago
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Hallervorden-Spatz Disease

Case Detail

Anatomy: Brain-Spine
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Metabolic
Created: over 7 years ago
Updated: over 7 years ago
Tags: PEDS
Modality/Study Types: MR
Activities:
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History

10 year year old with severe dystonia.


Case Images


Diagnosis

Hallervorden-Spatz Disease

Findings

MR- GRE images reveal marked symmetric decreased signal in the globus pallidi. Note that the signal disturbance is less pronounced on the fast spin echo T2 image; susceptibility artifacts of iron are less with FSE techniques.

Discussion

Hallervorden-Spatz Disease (HSD) is also known as pantothenate kinase associated neurodegeneration and neurodegeneration with iron accumulation. HSD is caused by mutations in the pantothenate kinase 2 gene which is necessary for coenzyme A production in mitochondria. Deficiency of coenzyme A results in cysteine containing enzymes that can chelate iron. The markedly decreased signal that results from iron deposition in the globus pallidi gives rise to the classic “eyes of the tiger” appearance. Spectroscopy shows decreased NAA and elevated myo-inositol.

Reference

Cecil KM and Faerber EN. Inherited Metabolic and Neurodegenerative Brain Diseases. Caffey’s Pediatric Diagnostic Imaging, 11th Edition (2008).



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