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Follow-up magnetic resonance imaging in Hallervorden-Spatz disease
O F Brouwer1, P M Laboyrie, A C Peters
1Department of Neurology, University Hospital, Leiden, The Netherlands.
Abstract:
Bilateral high signal emitting areas in the globus pallidus surrounded by low signal emitting areas have been described as a typical MRI finding in Hallervorden-Spatz disease (HSD). We made a diagnosis of HSD in an 11-year-old girl with progressive dystonia of 4 years duration who showed these typical MRI abnormalities. An initial MRI at the age of 9 was normal. Pathological confirmation of these typical MRI findings has not yet been described, but earlier reports as well as our case suggest that MRI may be helpful in making a clinical diagnosis of HSD. This case further shows that MRI may be normal in an early stage of the disease.
Insights
Hallervorden-Spatz disease (HSD) diagnosis is supported by characteristic MRI findings in the globus pallidus. This case highlights that early-stage HSD may present with normal MRI scans.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Hallervorden-Spatz disease (HSD), now known as neurodegeneration with brain iron accumulation (NBIA), is a rare, inherited neurodegenerative disorder.
- It is characterized by progressive dystonia, spasticity, and cognitive decline.
- Typical MRI findings include the 'eye-of-the-tiger' sign in the globus pallidus.
Observation:
- An 11-year-old girl presented with a 4-year history of progressive dystonia.
- Her MRI scans revealed bilateral high signal intensity in the globus pallidus, surrounded by low signal intensity areas.
- Notably, an MRI performed at age 9 was normal.
Findings:
- The observed MRI abnormalities are consistent with the typical findings described for Hallervorden-Spatz disease.
- This case supports the utility of MRI in the clinical diagnosis of HSD.
- The findings also suggest that MRI may be normal in the early stages of the disease.
Implications:
- Early and accurate diagnosis of HSD is crucial for timely management and genetic counseling.
- The 'eye-of-the-tiger' sign on MRI is a valuable diagnostic biomarker for HSD.
- Recognizing that early-stage HSD can have normal MRI findings is important to avoid diagnostic delays.