HALLERVORDEN SPATZ DISEASE PDF

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. The classic presentation is in the late part of the first decade or the early part of the second decade, when the individual is between ages 7 years and 15 years.

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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.

The classic presentation is in the late part of the first decade or the early part of the second decade, when the individual is between ages 7 years and 15 years. However, the disease has been reported in infancy, and cases with adult onset have been described as well. The course is characterized by progressive dementia, corticospinal signs e. The course of the disease usually proceeds over years and affected individuals typically die in the second or third decade, but case reports describe patients surviving 30 years.

When familial, HSD is inherited recessively; it has been linked to chromosome These abnormalities progressed over 4 years with anarthria, severe dysphagia and abnormal movement of tongue [ Video 1 ]. Click here to view. No visual abnormalities were detected. No significant family history was obtained. Neurological examination revealed sever slurred speech; sever tongue dystonia, mild bilateral rigidity on lower limbs, hyperreflexia, and auto babinski.

Laboratory investigations including serum copper and ceruloplasmin levels were normal. Magnetic resonance imaging MRI scan revealed small hyper intensity in the inner part of both GP, surrounded by the hypo-intense rim peripherally on T2 [ Figure 1 ].

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Neurodegeneration with brain iron accumulation (NBIA)

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 Radiographic features Reflects areas of iron deposition, mainly in the globi pallidi, substantia nigra, and red nuclei. 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. References 1.

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Hallervorden-Spatz Disease

These individuals face significant speech deficits as well as psychiatric and behavioral disturbances. Being a progressive, degenerative nerve illness, PKAN leads to early immobility and often death by early adulthood. Death occurs prematurely due to infections such as pneumonia, and the disease in itself is technically not life limiting. Genetics[ edit ] PKAN is an autosomal recessive disorder. Both the parents of an afflicted child must be heterozygous carriers for the disease and therefore must carry one mutant allele. As it is an autosomal disorder, those heterozygous for the disorder may not display any atypical characteristics that are considered suggestive of the disorder, however there have been reported cases of compound heterozygosity in which heterozygous individuals do develop the classic form of the disease.

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Pantothenate kinase-associated neurodegeneration

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