Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/1576
Título: GM1 Gangliosidosis, Late Infantile Onset Dystonia, and T2 Hypointensity in the Globus Pallidus and Substantia Nigra
Autor: Vieira, JP
Conceição, C
Scortenschi, E
Palavras-chave: Gangliosidose GM1
Criança
HDE NEU PED
HDE NRAD
Data: 2013
Editora: Elsevier Inc.
Citação: Pediatric Neurology.2013; 49: 195-197
Resumo: 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.
Peer review: Yes
URI: http://hdl.handle.net/10400.17/1576
Aparece nas colecções:NEU PED - Artigos
NRAD - Artigos

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