Volume 22, Issue 87 (Apr 2012)                   J Mazandaran Univ Med Sci 2012, 22(87): 109-113 | Back to browse issues page

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Abstract:   (15982 Views)

Hallervorden Spatz Disease is a rare neurodegenerative disorder with the prevalence of one to three per million. The onset of symptoms is usually in late childhood and early adolescence. However, some cases of the disease were reported in adulthood which could be familial or sporadic. The familial cases are autosomal-recessive resulting from mutation in the pantothenate kinase 2 gene located on chromosome 20 causing abnormal accumulation of iron in globus pallidus and pars reticulata. Major clinical features include abnormal involuntary movements and cognitive impairment. Diagnosis is made based on presence of both pyramidal and extrapyramidal symptoms in clinical and radiological investigation. The radiological features are hypointense signals in globus pallidus and substantia nigra on MRI of brain. Occasionally the pallidal hypointense signals surround hyperintense signals which is known as “tiger-eye-sign” and is believed to be specific for Hallervorden Spatz Disease.

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Type of Study: Case Report |