title: Neuroaxonal dystrophy in childhood. Report of two second cousins with Hallerworden-Spatz disease, and a case of Seitelberger's disease.
abstract: Three late infantile cases of neuroaxonal dystrophy are presented, two of them second cousins with Hallerworden-Spatz disease and one sporadic case with Seitelberger's disease. At about 1 1/2 years of age the patients with Hallerworden-Spatz disease developed clinical signs including progressive extrapyramidal motor disorder and mental retardation. They died at 8 and 11 years. Iron deposits and axonal dystrophy were found in the pallidum. The changes are compared to those in a case of infantile neuroaxonal dystrophy (Seitelberger's disease), the first to be reported in Scandinavia.
mesh_terms: D001480:Basal Ganglia Diseases / Q000473:pathology*; D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000473:pathology*; D005260:Female; D006801:Humans; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D013577:Syndrome