We present a case report of a 50-year old woman that was diagnosed as atypical Hallervorden-Spatz disease with dominant extrapyramidal symptoms and the lack of typical eye-of-the-tiger sign in brain MRI.
📌 3 Maddede Bu Makale
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Amaç & Hipotez:Hallervorden-Spatz syndrome is a rare neurodegenerative disease, resulting from mutation in the Pantothenate kinase-2 gene, and characterized by progressive pyramidal and extrapyramidal dysfunction, dementia, retinal degeneration and optic nerve atrophy.
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Temel Bulgular & Veri:Clinical symptoms are related to abnormal iron deposition in the globus pallidus and substantia nigra.
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Sonuç & Katkı:We present a case report of a 50-year old woman that was diagnosed as atypical Hallervorden-Spatz disease with dominant extrapyramidal symptoms and the lack of typical eye-of-the-tiger sign in brain MRI.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Hallervorden-Spatz disease · iron deposition · eye-of-the-tiger sign
Abstract
Hallervorden-Spatz syndrome is a rare neurodegenerative disease, resulting from mutation in the Pantothenate kinase-2 gene, and characterized by progressive pyramidal and extrapyramidal dysfunction, dementia, retinal degeneration and optic nerve atrophy. Clinical symptoms are related to abnormal iron deposition in the globus pallidus and substantia nigra. We present a case report of a 50-year old woman that was diagnosed as atypical Hallervorden-Spatz disease with dominant extrapyramidal symptoms and the lack of typical eye-of-the-tiger sign in brain MRI.
Milanlıoglu, A., Aydın, M. N., Gökgül, A., Hamamcı, M., Tombul, T. (2014). Adult-onset atypical form of Hallervorden-Spatz disease. Eastern Journal of Medicine, Cilt: 18 Sayı: 4, 221–223. https://ajindex.com/articles/984917
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