GM1 - type 1 glanglio sido sis: anatomo-clinic study of a case

The observation of generalized GM1 gangliosidosis type 1 (Norman-Landing disease) is reported. The case is typical, featuring all the main clinical and biological signs of the disease. Diagnosis was established by the demonstration of a severe deficit in beta-galactosidase activity in leucocytes, by...

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Veröffentlicht in:Arquivos de neuro-psiquiatria 1987-03, Vol.45 (1), p.60-66
Hauptverfasser: Barbosa-Coutinho, Ligia Maria, Assis-Brasil, Beatriz Maria, Drachler, Maria de Lourdes, Rotta, Newra Tellechea, Giuliani, Roberto
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Sprache:eng
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Zusammenfassung:The observation of generalized GM1 gangliosidosis type 1 (Norman-Landing disease) is reported. The case is typical, featuring all the main clinical and biological signs of the disease. Diagnosis was established by the demonstration of a severe deficit in beta-galactosidase activity in leucocytes, by the demonstration of oligosacarides in the urine, and by the histological examination after the fatal outcome before the age of two with severe respiratory distress. Registro da observação de um caso de gangliosidose GM1 - tipo 1 (doença de Norman-Landing). O caso é típico, apresentando todos os principais sinais clínicos e biológicos da doença. O diagnóstico foi estabelecido pela demonstração de déficit severo da atividade de beta-galactosidase em leucócitos, pela demonstração de oligossacarídeos na urina e pelo exame histológico feito após a morte, que ocorreu antes de dois anos de idade, com comprometimento respiratório severo.
ISSN:0004-282X
1678-4227
0004-282X
DOI:10.1590/S0004-282X1987000100008