Hallervorden-Spatz sendromu
Pantothenate kinase associated neurodegeneration
Kalıtsal - AR
Dizartri (anlaşılamayan konuşma)
Pigmentli retinopati
Optik atrofi
Yüz buruşturma
Yüz kaslarında istemsiz titreşimler (orofasiyal diskinezi)
Dil ve damak kaslarında istemsiz titreşimler (orofasiyal diskinezi)
Ekstremitelerde giderek artan kasılmalar
Distoni
Koreoatetoz
Ayaklarda equinovarus deformasyonu
Beyinde dejeneratif değişiklikler (generalize atrofi)
Beyin MRI incelemeleri: kaplan gözü bulgusu (özgün bulgu)
İlerleyici uyumsuzluk bulguları
İdrar kaçırma
Psikiyatrik sorunlar
-
Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. New England Journal of Medicine, 348:33–40, 2003
-
Baumeister FA, Auer DP, Hörtnagel K, Freisinger P, Meitinger T. The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome. Neuropediatrics, 36:221–222, 2005
-
Egan RA, Weleber RG, Hogarth P, et al. Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). American Journal of Ophthalmology, 140:267–274, 2005
-
Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. Journal of Medical Genetics, 46: 73-80, 2009
-
Chiapparini L, Savoiardo M, D’Arrigo S, et al. The “eye-of-the-tiger” sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration. Neuropediatrics, 42:159–162, 2011