Hallervorden-Spatz Disease Workup

  • Author: Philip A Hanna, MD; Chief Editor: Selim R Benbadis, MD   more...
 
Updated: Feb 28, 2012
 

Approach Considerations

No biochemical markers have been found in Hallervorden-Spatz disease (HSD). levels of copper, ceruloplasmin, lipids, amino acids, and acanthocytes typically are measured in the blood to exclude other conditions. Radionuclide scan reveals increased iron uptake in the basal ganglia.[19]

Cultured skin fibroblasts have been reported to accumulate iron (59 Fe) transferrin, but the isotope is no longer available for human use.

Increased platelet monoamine oxidase ̶ B activity has been reported.[20] Bone marrow histiocytes and peripheral lymphocytes may demonstrate the presence of abnormal cytosomes, including fingerprint, granular, and multilaminated bodies.[21, 22] The characteristics of the material suggest the presence of ceroid lipofuscin.

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CT Scanning and MRI

CT scanning

Computed tomography (CT) imaging is not very helpful in the diagnosis of HSD but may exhibit hypodensity in the basal ganglia and some atrophy of the brain. Calcification in the basal ganglia in the absence of any atrophy also has been described.

SPECT scanning

Iodine-123 (123 I)-beta-carbomethoxy-3beta-(4-fluorophenyl) tropane (CIT) single-photon emission computed tomography (SPECT) scanning and (123 I)-iodobenzamide (IBZM)-SPECT scanning also have been used in making the diagnosis of HSD.[23]

MRI

MRI has increased the likelihood of antemortem diagnosis of HSD.[24, 25, 26] The image below depicts the typical MRI appearance in HSD, revealing bilaterally symmetrical, hyperintense signal changes in the anterior medial globus pallidus, with surrounding hypointensity in the globus pallidus, on T2-weighted scanning. These imaging features are fairly diagnostic of HSD and have been termed the "eye-of-the-tiger sign."[27, 28, 29]

Magnetic resonance imaging (MRI) has increased theMagnetic resonance imaging (MRI) has increased the likelihood of antemortem diagnosis of Hallervorden-Spatz (HSD) disease. The typical MRI findings include bilaterally symmetrical, hyperintense signal changes in the anterior medial globus pallidus, with surrounding hypointensity in the globus pallidus, on T2-weighted images. These imaging features, which are fairly diagnostic of HSD, have been termed the "eye-of-the-tiger sign." The hyperintensity represents pathologic changes, including gliosis, demyelination, neuronal loss, and axonal swelling. The surrounding hypointensity is due to loss of signal secondary to iron deposition.

A study by McNeill et al concluded that in most cases of HSD, different subtypes of neurodegeneration associated with brain iron accumulation can be reliably distinguished with T2 and T2, fast ̶ spin echo brain MRI.[26]

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Contributor Information and Disclosures
Author

Philip A Hanna, MD  Associate Professor, Department of Neuroscience, Seton Hall University School of Graduate Medical Education; Residency Program Director, New Jersey Neuroscience Institute, JFK Medical Center; Neurology Director, Huntington's Disease Unit, JFK Hartwyck-Cedarbrook

Philip A Hanna, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, and Movement Disorders Society

Disclosure: Nothing to disclose.

Coauthor(s)

Neeta Garg, MD, DM  Assistant Professor, Department of Neurology, University of Buffalo State University of New York School of Medicine and Biomedical Sciences

Neeta Garg, MD, DM is a member of the following medical societies: American Academy of Neurology

Disclosure: Nothing to disclose.

Chief Editor

Selim R Benbadis, MD  Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, Tampa General Hospital, University of South Florida College of Medicine

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association

Disclosure: UCB Pharma Honoraria Speaking, consulting; Lundbeck Honoraria Speaking, consulting; Cyberonics Honoraria Speaking, consulting; Glaxo Smith Kline Honoraria Speaking, consulting; Pfizer Honoraria Speaking, consulting; Sleepmed/DigiTrace Honoraria Speaking, consulting

Additional Contributors

Nestor Galvez-Jimenez, MD, MSc, MHA Chairman, Department of Neurology, Program Director, Movement Disorders, Department of Neurology, Division of Medicine, Cleveland Clinic Florida

Nestor Galvez-Jimenez, MD, MSc, MHA is a member of the following medical societies: American Academy of Neurology, American College of Physicians, and Movement Disorders Society

Disclosure: Nothing to disclose.

Brian L Gerhardstein, MD, PhD Staff Physician, Department of Neurology, New Jersey Neuroscience Institute, JFK Medical Center

Disclosure: Nothing to disclose.

Christopher Luzzio, MD Clinical Assistant Professor, Department of Neurology, University of Wisconsin at Madison

Christopher Luzzio, MD is a member of the following medical societies: American Academy of Neurology

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Reference Salary Employment

References

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  2. Szumowski J, Bas E, Gaarder K, Schwarz E, Erdogmus D, Hayflick S. Measurement of brain iron distribution in Hallevorden-Spatz syndrome. J Magn Reson Imaging. Feb 2010;31(2):482-9. [Medline].

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  21. Swaiman KF, Smith SA, Trock GL, et al. Sea-blue histiocytes, lymphocytic cytosomes, movement disorder and 59Fe- uptake in basal ganglia: Hallervorden-Spatz disease or ceroid storage disease with abnormal isotope scan?. Neurology. Mar 1983;33(3):301-5. [Medline].

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Magnetic resonance imaging (MRI) has increased the likelihood of antemortem diagnosis of Hallervorden-Spatz (HSD) disease. The typical MRI findings include bilaterally symmetrical, hyperintense signal changes in the anterior medial globus pallidus, with surrounding hypointensity in the globus pallidus, on T2-weighted images. These imaging features, which are fairly diagnostic of HSD, have been termed the "eye-of-the-tiger sign." The hyperintensity represents pathologic changes, including gliosis, demyelination, neuronal loss, and axonal swelling. The surrounding hypointensity is due to loss of signal secondary to iron deposition.
 
 
 
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