Öz
Kaynakça
- Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003; 348: 33-40.
- Swaiman KF. Hallervorden-Spatz syndrome and brain iron metabolism. Arch Neurol 1991; 48: 128512
- Zhou B, Westaway SK, Levinson B, et al. A novel panthothenate Kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nature Genetics 2001; 28: 345-349. del Valle-Lopez P, Perez-Garcia R, Sanguino-Andres
- R, Gonzalez-Pablos E. Adult onset HallervordenSpatz disease with psychotic symptoms. Actas Esp Psiquiatr 2011; 39: 260-262.
- .Baumeister FA, Auer DP, Hortnagel K, Freisinger P, Meitinger T. The eye of the tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome. Neuropediatrics 2005; 36: 221-222.
- Müller T, Amoiridis G, KuhnW, Przuntek H. Iron deposits in the subthalamic nuclei in HallervordenSpatz disease. Eur Neurol 1999; 42: 240-244.
- Koeppen AH, Dickson AC. Iron in the HallervordenSpatz syndrome. Pediatr Neurol 2001; 25: 148-155.
- Hartig MB, Hörtnagel K, Garavaglia B, et al. Genotypic and phenotypic spectrum of PKAN2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol 2006; 59: 2482
- Sharma MC, Aggarwal N, Bihari M, et al. Hallervorden-Spatz diseaase: MR and pathological findings of a rare case. Neurology India 2005; 53: 102Gordon N. Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome).
- Eur J Paediatr Neurol 2002; 6: 243-247.
Öz
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.
Anahtar Kelimeler
Hallervorden-Spatz disease iron deposition eye-of-the-tiger sign neurodegeneration related to pantothenate kinase basal ganglia
Kaynakça
- Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003; 348: 33-40.
- Swaiman KF. Hallervorden-Spatz syndrome and brain iron metabolism. Arch Neurol 1991; 48: 128512
- Zhou B, Westaway SK, Levinson B, et al. A novel panthothenate Kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nature Genetics 2001; 28: 345-349. del Valle-Lopez P, Perez-Garcia R, Sanguino-Andres
- R, Gonzalez-Pablos E. Adult onset HallervordenSpatz disease with psychotic symptoms. Actas Esp Psiquiatr 2011; 39: 260-262.
- .Baumeister FA, Auer DP, Hortnagel K, Freisinger P, Meitinger T. The eye of the tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome. Neuropediatrics 2005; 36: 221-222.
- Müller T, Amoiridis G, KuhnW, Przuntek H. Iron deposits in the subthalamic nuclei in HallervordenSpatz disease. Eur Neurol 1999; 42: 240-244.
- Koeppen AH, Dickson AC. Iron in the HallervordenSpatz syndrome. Pediatr Neurol 2001; 25: 148-155.
- Hartig MB, Hörtnagel K, Garavaglia B, et al. Genotypic and phenotypic spectrum of PKAN2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol 2006; 59: 2482
- Sharma MC, Aggarwal N, Bihari M, et al. Hallervorden-Spatz diseaase: MR and pathological findings of a rare case. Neurology India 2005; 53: 102Gordon N. Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome).
- Eur J Paediatr Neurol 2002; 6: 243-247.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 14 Mart 2014 |
| Yayımlandığı Sayı | Yıl 2013 Cilt: 18 Sayı: 4 |