Resumo

GONZALEZ LOPEZ, Irelis et al. A propos of a case of gangliosidosis GM. Type II. Sandhoff disease. Rev.Med.Electrón. [online]. 2015, vol.37, n.3, pp. 263-271. ISSN 1684-1824.

Gangliosidosis are a group of hereditary diseases of lysosomal storage, due to an accumulation of gangliosides, especially in the neurons. The cause is the dysfunction of several lysosomal enzymes in the way of the gangliosides degradation. There are several forms of gangliosidesis, like GM1 and GM2. We present the case of a 33-years-old patient who was previously diagnosed with lateral amyotrophic sclerosis. Because of several symptoms he presented we carried out some complementary exams showing as a result a gangliosidosis GM-2 Type II or Sandhoff disease.

Palavras-chave : gangliosidesis GM-2; lysosomal enzymes; lysosomal storage disease.

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