HALLERVORDEN SPATZ SYNDROME PDF

Pantothenate kinase-associated neurodegeneration PKAN , formerly called Hallervorden—Spatz syndrome [1] , is a genetic degenerative disease of the brain that can lead to parkinsonism , dystonia , dementia , and ultimately death. Neurodegeneration in PKAN is accompanied by an excess of iron that progressively builds up in the brain. Symptoms typically begin in childhood and are progressive, often resulting in death by early adulthood. Symptoms of PKAN begin before middle childhood, and most often are noticed before ten years of age. Symptoms include:.

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It is a subset of neurodegeneration with brain iron accumulation NBIA. Prevalence is estimated around per million The clinical course is usually relentlessly progressive with affected individuals dying in their second or third decade. The diagnosis is made by a combination of clinical and imaging features, however, genetic testing and full gene sequencing of the PANK2 gene to identify biallelic PANK2 pathogenic variants is considered the gold standard Reflects areas of iron deposition, mainly in the globi pallidi, substantia nigra, and red nuclei.

Cortex is usually spared but caudate atrophy may be seen in more advanced cases. The eye of the tiger sign refers to a central T2 relatively hyperintense spot line within the hypointense globi pallidi due to gliosis and vacuolisation 3. Hugo Spatz,was Director of his division. Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. Updating… Please wait.

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Scholz W. Pubmed 2. Hallervorden-Spatz disease: MR and pathologic findings. Promoted articles advertising. Edit article Share article View revision history Report problem with Article. URL of Article. Article information. System: Central Nervous System. Section: Syndromes. Tags: cases , cases , syndrome. Support Radiopaedia and see fewer ads. Cases and figures. Case 1: probable Case 1: probable. Case 2 Case 2. Loading more images Close Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys.

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Hallervorden-Spatz Disease

NCBI Bookshelf. Maria R. Authors Maria R. Bokhari 3. Hallervorden Spatz disease was first described in by two German physicians, Hallervorden and Spatz, as a form of familial brain degeneration characterized by cerebral iron deposition and hence the name so. One of the proposed hypothesis is that aberrant oxidation of lipofuscin to neuromelanin and insufficient cysteine dioxygenase leading to abnormal iron accumulation in the brain. Mutations result in an autosomal recessive inborn error of coenzyme A metabolism with resultant deficiency of pantothenate kinase enzyme which may lead to accumulation of cysteine and cysteine-containing compounds in the basal ganglia.

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Hallervorden-Spatz disease

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Pantothenate kinase-associated neurodegeneration PKAN is the most common type of neurodegeneration with brain iron accumulation NBIA; see this term , a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction dystonia, rigidity, choreoathetosis , iron accumulation on the brain and axonal spheroids in the central nervous system. Patients present with symptoms anywhere along a continuum between the two. In classic PKAN, patients present with impaired gait and falling, often related to dystonia, rigidity, impaired balance, or spasticity, and usually lose the ability to ambulate by years after onset. Episodes of rapid decline, which may include status dystonicus, occur interspersed with longer periods of relative stability.

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Pantothenate kinase-associated neurodegeneration

It is a subset of neurodegeneration with brain iron accumulation NBIA. Prevalence is estimated around per million The clinical course is usually relentlessly progressive with affected individuals dying in their second or third decade. The diagnosis is made by a combination of clinical and imaging features, however, genetic testing and full gene sequencing of the PANK2 gene to identify biallelic PANK2 pathogenic variants is considered the gold standard Reflects areas of iron deposition, mainly in the globi pallidi, substantia nigra, and red nuclei. Cortex is usually spared but caudate atrophy may be seen in more advanced cases. The eye of the tiger sign refers to a central T2 relatively hyperintense spot line within the hypointense globi pallidi due to gliosis and vacuolisation 3.

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Hallervorden-Spatz disease HSD is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. Hallervorden and Spatz first described the disease, in as a form of familial brain degeneration characterized by iron deposition in the brain. Here we present four HSD cases with different clinical pictures. The term neurodegeneration with brain iron accumulation type 1, instead of HSD, eventually came to be used for this condition;[ 1 ] although, the most recent term for the disorder is pantothenate kinase PANK2 - associated neurodegeneration.

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