2009, Number 3
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Acta Pediatr Mex 2009; 30 (3)
Infantile form of Pompe disease (glycogenosis type II). Report of two cases in Mexican children discovered at autopsy
Ridaura-Sanz C, León-Bojorge B, Belmont-Martínez L, Vela-Amieva M
Language: Spanish
References: 19
Page: 142-147
PDF size: 570.76 Kb.
ABSTRACT
We present two cases of type II glycogenosis diagnosed at autopsy in two Mexican boys 5 and 6 months of age. The diagnosis was based on characteristic tissue findings secondary to glycogen overload in the heart, skeletal muscle and central and peripheral neurons. Although clinical diagnosis and treatment are feasible, unfortunately this disease is usually identified at autopsy and hence its actual frequency is underestimated in our country.
REFERENCES
Hers HG. Alpha-glucosidase deficiency in generalized glycogen storage disease (Pompe’s disease). Biochem J 1963;86:11-16.
Hirschhorn R, Reuser AJJ. Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency. In Scriver CR, Beaudet AC, Sly WS, Valle D, editors. The Metabololic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw-Hill; 2000. p. 3398-420.
Martiniuk F, Mehler M, Pellicer A, Tzall S, LaBadie G, Hobart C, et al. Isolation of a cDNA for human acid alpha glucosidase and detection of genetic heterogeneity for mRNA in three alpha glucosidase deficient patients. Proc Natl Acad Sci 1986;83:9641.
Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJJ, Oostra BA. Characterization of the human lysosomal alpha glucosidase gene. Biochem J 1990;272:493.
Palmer RE, Amartino HM, Niizawa G, Blanco M, Pomponio RJ, Chamoles NA. Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations. Neuromuscul Disord 2007;17(1):16-22.
Kishnani P, Steiner RD, Bali D, Berger K, Byrne BJ, Case L, et al. ACMG Work Group on Mangement of Pompe Disease: Pompe disease diagnosis and management guideline. Genetics in Medicine 2006;8(5):267-88.
Gort L, Coll MJ, Chabás A. Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation. Mol Genet Metab 2007;92(1-2):183-7.
Ausems MG, Verbiest J, Hermans MP, Kroos MA, Beemer FA, Wokke JH et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counseling. Eur J Hum Genet 1999;7:713-16.
Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D. Infantile-Onset Pompe Disease Natural History Study Group. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 2006;148(5):671-6.
Smith WE, Sullivan-Saarela JA, Li JS, Cox GF, Corzo D, Chen YT, Kishnani PS. Sibling phenotype concordance in classical infantile Pompe disease. Am J Med Genet A 2007;143A(21):2493-501.
Mardsen D. Infantile onset Pompe disease: a report of physicians narratives from an epidemiologic study. Genet Med 2005;7:147-50.
Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr 2004;144(suppl 5):S35-S43.
Hagemans ML, Janssens AC, Winkel LP, Sieradzan KA et al. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology 2004;63:1688-92.
Chamoles N, Blanco M, Gaggioli D. Fabry Disease: Enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 2001;308:195-6.
Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007;68(2):99-109.
Krishnani P, Howell RR, Byrne B, Darras B, Kishnani P, et al. Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndrome. Genet Med 2006;8:289-96.
Ing RJ, Cook DR, Bengur RA, Williams EA, Eck J, Dear G de L, et al. Anaesthetic management of infants with glycogen storage disease type II: a physiological approach. Paediatr Anaesth 2004;14:514-9.
McFarlane HJ, Soni N. Pompe’s disease and anaesthesia. Anaesthesia 1986;41:1219-24.
Riou B, Lecarpentier Y, Viras P. Effects of etomidate on the cardiac papillary muscle of normal hamsters and those with cardiomyopathy. Anesthesiology 1993;78:83-90.