Publication
GM1 Gangliosidosis, Late Infantile Onset Dystonia, and T2 Hypointensity in the Globus Pallidus and Substantia Nigra
| dc.contributor.author | Vieira, JP | |
| dc.contributor.author | Conceição, C | |
| dc.contributor.author | Scortenschi, E | |
| dc.date.accessioned | 2013-12-05T16:36:32Z | |
| dc.date.available | 2013-12-05T16:36:32Z | |
| dc.date.issued | 2013 | |
| dc.description.abstract | BACKGROUND: GM1 gangliosidosis is a rare disease due to mutations in the GLB1 gene and autosomal recessive deficiency of b-galactosidase. There is considerable overlap between classical phenotypes and clinical and imaging findings, which are often difficult to interpret. PATIENT: 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 thediagnosis of GM1 gangliosidosis. | por |
| dc.identifier.citation | Pediatric Neurology.2013; 49: 195-197 | por |
| dc.identifier.uri | http://hdl.handle.net/10400.17/1576 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | Yes | |
| dc.publisher | Elsevier Inc. | por |
| dc.subject | Gangliosidose GM1 | por |
| dc.subject | Criança | por |
| dc.subject | HDE NEU PED | por |
| dc.subject | HDE NRAD | por |
| dc.title | GM1 Gangliosidosis, Late Infantile Onset Dystonia, and T2 Hypointensity in the Globus Pallidus and Substantia Nigra | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 197 | por |
| oaire.citation.startPage | 195 | por |
| oaire.citation.volume | 49 | por |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |