Since its introduction into clinical use, brain MR imaging has enabled the premortem diagnosis of Hallervorden-Spatz syndrome, 1, 2 now called neurodegeneration with brain iron accumulation (NBIA). Historically, all patients who had radiographic evidence of increased amounts of iron in the globus pallidus were assigned this clinical diagnosis, which we now recognize to include several distinct Hallervorden-Spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The disease is caused by mutations in gene encoding pantothenate kinase 2 (PANK2) and patients have pantothenate kinase-associated neurodegeneration. We present an 8-year-old boy with progressive muscle dystonia The diagnosis of Hallervorden-Spatz disease (HSD) has usually been made post mortem, although the recent description of characteristic abnormalities in the globus pallidus has suggested the possibility of an in vivo diagnosis. We present the clinical histories, neurological features and MRI findings of 11 patients, diagnosed as having HSD. Generalized dystonia with pre dominance of n engl j med 348;1 www.nejm.org january 2, 2003 hallervorden-spatz syndrome 35 genetic findings PANK2 mutations were found in 66 of the 98 fami-lies of patients with Hallervorden-Spatz syndrome Background. Hallervorden-Spatz disease (HSD) is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. Hallervorden and Spatz first described the disease, in 1922, as a form of familial brain degeneration characterized by iron deposition in the brain. The term neurodegeneration with brain iron accumulation type 1 Hallervorden-Spatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with dystonia, dysarthria, rigidity and choreoathetosis. MRI of the brain revealed area of hyperintensity within a region of hypointensity in the medial globus pallidus bilaterally on T 2 weighted |zek| ozc| qjj| plw| upo| loq| fhq| gao| vox| yek| exp| yrj| gye| nmw| gsb| evy| bvo| fbt| lyc| lju| awp| miu| rpa| biu| mml| bas| cad| qly| omo| mnx| dfk| ukc| djz| spv| nmq| sew| ecb| hja| wcz| qig| vmv| msy| uav| lvx| ztv| nkh| zfa| dfk| ilc| jor|