title: GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra.
abstract: BACKGROUND
  GM1 gangliosidosis is a rare disease due to mutations in the GLB1 gene and autosomal recessive deficiency of β-galactosidase. There is considerable overlap between classical phenotypes and clinical and imaging findings, which are often difficult to interpret.
  
  
  METHODS
  The patient in this study had dysmorphism, dysostosis, progressive dystonia, and T2 hypointensity in the basal ganglia. Partially similar clinical and radiologic findings were described previously in two reports.
  
  
  CONCLUSIONS
  T2 hypointensity in the globus pallidus should, in the appropriate clinical setting, lead to consideration of the diagnosis of GM1 gangliosidosis.
authors.affiliation: Neurology Department, Hospital Dona Estefânia, Centro Hospitalar de, Lisboa Central, Portugal. jose.vieira@chlc.min-saude.pt
authors.forename: José Pedro
authors.initials: JP
authors.lastname: Vieira
authors.forename: Carla
authors.initials: C
authors.lastname: Conceição
authors.forename: Ecaterina
authors.initials: E
authors.lastname: Scortenschi
mesh_terms: D002648:Child; D020821:Dystonic Disorders / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D016537:Gangliosidosis, GM1 / Q000378:metabolism*; D005917:Globus Pallidus / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D013378:Substantia Nigra / Q000378:metabolism / Q000473:pathology; D001616:beta-Galactosidase / Q000235:genetics
chemical_list: C061901:GLB1 protein, human; D001616:beta-Galactosidase