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Thread: Hallervorden-Spatz case pictures - NEURORADIOLOGY ATLAS

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    Default Hallervorden-Spatz case pictures - NEURORADIOLOGY ATLAS

    Etiology
    The exact etiology of HSD is not known. One proposed hypothesis is that abnormal peroxidation of lipofuscin to neuromelanin and deficient cysteine dioxygenase lead to abnormal iron accumulation in the brain. While portions of the globus pallidus and pars reticulata of substantia nigra (SN) have high iron content in healthy individuals, individuals with HSD have excess amounts of iron deposited in these areas.

    However, the exact role of iron in the etiology of this disease remains unknown. Also, whether the deposition of iron in basal ganglia in HSD is the cause or consequence of neuronal loss and gliosis is not clear. Decreased activity of the enzyme cysteine dioxygenase was demonstrated in one affected child. This was postulated to lead to accumulation of cysteine in the basal ganglia, since cysteine can chelate iron and thus result in its deposition. However, these findings were not confirmed in adult patients.

    A role for mutation in the PANK2 gene (band 20p13) in the etiology of HSD has been proposed. Deficiency of pantothenate kinase may lead to accumulation of cysteine and cysteine-containing compounds in the basal ganglia. This causes chelation of iron in the globus pallidus and free radical generation as a result of rapid auto-oxidation of cysteine in the presence of iron. Mutations in the PANK2 gene account for most inherited HSD cases. Such mutations result in an autosomal recessive inborn error of coenzyme A metabolism, which has been termed pantothenate kinase–associated neurodegeneration
    Pathologic examination reveals characteristic rust-brown discoloration of the globus pallidus and SN pars reticulata secondary to iron deposition. Generalized atrophy of the brain may be noted, with a reduction in size of the caudate nuclei, SN, and tegmentum. Microscopically, the characteristic changes include the following:

    • Variable loss of neurons, myelinated fibers, and gliosis in globus pallidus and SN, which may appear spongiotic when severe
    • Widely disseminated rounded or oval, nonnucleated structures called spheroids (also known as axon schollen or neuroaxonal dystrophy); these represent swollen axons with vacuolated cytoplasm and are found most abundantly in the pallidonigral system, although they are also present in the cerebral cortex
    • Accumulation of pigment, mostly containing iron, in the globus pallidus and SN
    • Ceroid lipofuscin and neuromelanin containing iron, in the areas mainly affected (mentioned above)

    Hallervorden-Spatz case pictures NEURORADIOLOGY ATLAS attachment.php?s=23c25e7d255b226e7d428805504ff2a8&attachmentid=1537&d=1440445049

    Iron deposition may be found intracellularly and extracellularly and frequently is centered on vessels. These changes are found to a lesser degree in other parts of the brain and in the spinal cord. The presence of axonal spheroids suggests a link between HSD and infantile neuroaxonal dystrophy; however, no clinical or genetic relationship has been reported between the 2 diseases. Tau-positive neurofibrillary tangles and alpha-synuclein–positive Lewy bodies may be found in cortical and subcortical regions in patients with a prolonged clinical course

    Prognosis
    The clinical course of HSD is variable. In most patients, the disease has a progressive course extending over several years, leading to death in early childhood. Some patients experience rapid deterioration of function secondary to dystonia, rigidity, dysphagia, and respiratory compromise and die within 1-2 years of disease onset. Other patients undergo a slower progression or even plateau for many years and may continue to function into the third decade of life.

    Physical Examination
    Physical examination reveals signs consistent with extrapyramidal and corticospinal dysfunction. In addition to rigidity, dystonia, and chorea, patients may exhibit spasticity, brisk reflexes, and extensor plantar responses.

    Based on the common clinical features, the following diagnostic criteria for HSD have been proposed.For a definitive diagnosis, all of the obligate findings and at least 2 of the corroborative findings should be present. None of the exclusionary factors should be present.

    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.

    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.The characteristics of the material suggest the presence of ceroid lipofuscin.

    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.
    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

    References:
    http://emedicine.medscape.com/article/1150519-workup#c8











    Last edited by Medical Photos; 08-24-2015 at 07:37 PM.

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