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ISSN 1561-3119 (Electronic)

2014, Number 1

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Rev Cubana Pediatr 2014; 86 (1)

Generalized gangliosidosis type 1

Hernández GI, Seiglie DF, Campos HD, Marrón PL, Díaz GJL, Carmona PO

Language: Spanish
References: 6
Page: 103-107
PDF size: 106.02 Kb.


ABSTRACT

Generalized or GM 1 gangliosidosis is a lysosomal storage disease caused by mutations in the enzyme b-galactosidase gene, mainly characterized by affecting the central nervous system, visceromegalia, osseous dysostosis and facial dimorphism. This is the case of a male nursling born to non-consanguineous parents, 5 months of age, Apgar index of 6/8 due to neonatal hypoxia, with a history of several admissions to hospital because of diarrheal disease and respiratory infections. He was referred to the clinical genetic service since he presented with retarded psychomotor development, macrocrania and hepatomegalia, in addition to hyperchromic skin spots. The physical exam found evidence of possible effects by lysosomal metabolic disease. Among the diseases to be ruled out for the diagnosis were galactosialidosis of similar clinical characteristics and Morquio B disease with different clinical presentation but identical enzymatic deficiency.


REFERENCES

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  2. Tegay DH. GM1 Gangliosidosis. En: Medscape Week in Review [homepage en Internet] [citado 23 de enero de 2013]. Disponible en: https://login.medscape.com/login/sso /getlogin?urlCache=aHR0cDovL3d3dy5tZWRzY2FwZS5jb20vdmlld3Byb2dyYW0vNzA0 OV9wbnQ=&ac=401

  3. Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, et al. GM 1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta [serie en Internet]. 2011 Apr [citado 23 de enero de 2013];7. Disponible en: http://preview.ncbi.nlm.nih.gov/ pubmed?term=generalizedgangliosidosis&cmd=correctspelling

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  5. Chen H. Mucopolysaccharidosis IV (Morquio Syndrome). Atlas of Genetic Diagnosis and counseling. Totowa, New Jersey: Humana Press Inc.; 2006. p. 687-91.

  6. Alessandra d'Azzo, Generoso Andria, Pietro Strisciuglio, Hans Galjaard. Galactosialidosis. En: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill [libro en Internet]; 2010 [citado 23 de enero de 2013]. Disponible en: http://www.ommbid.com/OMMBID/the_online_metabolic_and_molecular_bases_of_in herited_disease/b /abstract/part16/ch152




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