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Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life
L Angelini1, N Nardocci, V Rumi
1Department of Child Neurology, Istituto Nazionale Neurologico C. Besta, Milan, Italy.
Insights
Diagnosing Hallervorden-Spatz disease (HSD) is now possible in living patients. Characteristic MRI findings in the globus pallidus, combined with specific neurological signs, suggest HSD.
Area of Science:
- Neuroscience
- Radiology
- Genetics
Background:
- Hallervorden-Spatz disease (HSD) diagnosis was historically limited to post-mortem examination.
- Recent advances suggested potential for in vivo diagnosis through characteristic globus pallidus abnormalities.
Observation:
- Eleven patients diagnosed with HSD were studied for clinical, neurological, and MRI findings.
- Common symptoms included generalized dystonia, behavioral changes, dementia, and retinal degeneration.
Findings:
- MRI revealed decreased T2-weighted signal intensity in the globus pallidus, indicative of iron deposition.
- A distinct "eye of the tiger" sign, a hyperintensity in the internal globus pallidus segment, was observed.
Implications:
- The combination of specific neurological signs and "eye of the tiger" MRI findings strongly suggests HSD in living individuals.
- This facilitates earlier diagnosis and potential therapeutic interventions for Hallervorden-Spatz disease.
Abstract:
The diagnosis of Hallervorden-Spatz disease (HSD) has usually been made post mortem, although the recent description of characteristic abnormalities in the globus pallidus has suggested the possibility of an in vivo diagnosis. We present the clinical histories, neurological features and MRI findings of 11 patients, diagnosed as having HSD. Generalized dystonia with predominance of oromandibular involvement, behavioural changes followed by dementia and retinal degeneration were present in all the patients. MRI pallidal abnormalities consisted of decreased signal intensity in T2-weighted images, compatible with iron deposits, and of a small area of hyperintensity in its internal segment ("eye of the tiger" sign). We propose that the combination of these neurological signs with these MRI findings could be considered as highly suggestive of a diagnosis of HSD in living patients.