A propos of a case of gangliosidosis GM. Type II. Sandhoff disease

Authors

  • Irelis González López Hospital Territorial Docente Dr. Mario Muñoz Monroy. Colón, Matanzas
  • Enrique Marcos Sierra Benítez Filial Universitaria Dr. Eusebio Hernández Pérez. Colón, Matanzas
  • Mairiannys Quianella León Pérez Filial Universitaria Dr. Eusebio Hernández Pérez. Colón, Matanzas
  • Mayra Luz Leiva González Hospital Territorial Docente Dr. Mario Muñoz Monroy. Colón, Matanzas
  • Samia Hernández Dreke Hospital Territorial Docente Dr. Mario Muñoz Monroy. Colón, Matanzas
  • Yadiel González Fernández Hospital Provincial Clínico Quirúrgico Docente José Ramón López Tabrane. Matanzas

Keywords:

gangliosidesis GM-2, lysosomal enzymes, lysosomal storage disease

Abstract

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.

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Published

2015-05-12

How to Cite

1.
González López I, Sierra Benítez EM, León Pérez MQ, Leiva González ML, Hernández Dreke S, González Fernández Y. A propos of a case of gangliosidosis GM. Type II. Sandhoff disease. Rev Méd Electrón [Internet]. 2015 May 12 [cited 2025 Nov. 26];37(3):263-71. Available from: https://revmedicaelectronica.sld.cu/index.php/rme/article/view/1260

Issue

Vol. 37 No. 3 (2015)

Section

Presentation of cases

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