Hallervorden-Spatz Disease Workup
- Author: Philip A Hanna, MD; Chief Editor: Selim R Benbadis, MD more...
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.
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. Bone marrow histiocytes and peripheral lymphocytes may demonstrate the presence of abnormal cytosomes, including fingerprint, granular, and multilaminated bodies.[23, 24] The characteristics of the material suggest the presence of ceroid lipofuscin.
CT Scanning and MRI
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.
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.[25, 26]
MRI has increased the likelihood of antemortem diagnosis of HSD.[27, 28, 29] 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."[30, 31, 32]
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.
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