Esmer-Sánchez C, Salazar-Martínez A, Hernández-Mondragón H, Bravo-Oro A

Language: Spanish
References: 28
Page: 15-21
PDF size: 307.43 Kb.

ABSTRACT

Mucopolysaccharidoses are a heterogeneous group of diseases characterized by a genetic abnormality of the enzymes that participate in the metabolism of glucosamines in lysosomes. The most frequent findings in affected patients are the presence of coarse facial features associated with eye, bone and heart involvement; hepatosplenomegaly, skin infiltration, and umbilical and inguinal hernias. Neurological manifestations may vary from normal intellect, delay in psychomotor development, to progressive severe neurological deterioration. Clinical manifestations of mucopolysaccharidosis III or Sanfilippo disease are the paradigm of the accumulation of glycosaminoglycans in the central nervous system; however the lack of visceral involvement frequently delays diagnosis. We describe the neurological findings after a 5 year course of the disease in a patient with insomnia, neurosensory deafness, self-aggression, and neurological regression. Multiple hereditary and acquired disorders were discarded during the progress of the disease, but it was at the age of eight years when a lysosomal disorder was suspected; a quantification of urinary glycosaminoglycans was done, which confirmed the diagnosis of Sanfilippo syndrome.

REFERENCES

1. Muenzer J. The mucopolysaccharidoses: a heterogeneus group of disorders with variable pediatric presentations. J Pediatr 2004;144:S27-S34.

2. Bax MC, Colville GA. Behaviour in mucopolysaccharide disorders. Arch Dis Child 1995;73:77-81.

3. Meike PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54.

4. Valstar MJ, Ruijter GJG, Van Diggelen OP, Poorthuis BJ. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis 2008;31:240-52.

5. Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 2005;28:1011-7.

6. Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, et al. The frequency of lysosomal storage disorders in The Netherlands. Hum Genet 1999;105:151-6.

7. Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia. Pediatrics 1996;105(e10):1969-96.

8. Scott HS, Blanch L, Guo XH, Freeman C, Osborn A, Baker E, et al. Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. Nat Genet 1995;11:465–7.

9. Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF . The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci 1996;93:6101–5.

10. Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, et al. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Am J Hum Genet 2006;79:738–44.

11. Hrebicek M, Mrazova L, Seyrantepe V, Roslin NM, Nosková L, Hartmannová H, et al. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet 2006;79:807-19.

12. Robertson DA, Callen DF, Baker EG, Morris CP, Hopwood JJ. Chromosomal localization of the gene for human glucosamine- 6-sulphatase to 12q14. Hum Genet 1988;79:175-8.

13. Lyon G, Kolodny EH, Pastores GM. Late infantile progressive genetic encephalopathies (Metabolic encephalopaties of the second year of life). In: Lyon G, Kolodny EH, Pastores GM, (eds). Neurology of hereditary metabolic diseases of children. 3rd edition. McGraw-Hill; 2006. p. 211-22.

14. Colville GA, Watters JP, Yule W, Bax M. Sleep problems in children with Sanfilippo syndrome. Dev Med Child Neurol 1996;38:538-44.

15. Stromme P, Kanavin OJ, Abdelnoor M, Woldseth B, Rotwelt T, Diderichsen J, Bjurulf B, Finn Sommer, Magnus P. Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study. BMC Pediatr 2007;7:25.

16. Uvebrant P, Lanneskog K, Hagberg B. The epidemiology of progressive encephalopathies in childhood. I. Live birth prevalence in west Sweden. Neuropediatrics 1992;23:209-11.

17. Fenichel G. Psychomotor retardation and regression. In: Fenichel G (ed). A signs and symptoms approach. Sixth Edition. Philadelphia: Elsevier Saunders; 2009. p. 119-53.

18. Carr L. Metabolic and degenerative disorders of childhood. In: Warner T, Hammans S (eds). Practical guide to neurogenetics. Philadelphia: Saunders Elsevier; 2009. p. 276-309.

19. Lyon G, Kolodny EH, Pastores GM. Distintion between hereditary metabolic diseases and other diseases of the child´s nervous system. In: Lyon G, Kolodny EH, Pastores GM, (eds). Neurology of hereditary metabolic diseases of children. 3rd edition. McGraw-Hill; 2006. p. 393-496.

20. Shinnar S, Rapin I, Arnold S, Tuchman RF, Shulman S, Ballaban- Gil K, et al. Language regression in childhood. Pediatr Neurol 2001;24:185-91.

21. Hagberg B, Hanefeld F, Percy A, Skjeldal O. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol 2002;6:293–7.

22. Meyer A, Kossow K, Gal A, Muhlhausen C, Ulrich K, Braulke T, et al. Scoring evaluation of the natural course of mucopolysaccharidosis type III A (Sanfilippo syndrome type A). Pediatrics 2007;120:1255-61.

23. Cleary MA, Wraith JE. Management of mucopolysaccharidosis atype III. Arch Dis Child 1993;69:403-6.

24. Zhao HG, Aranovich EL, Whitley CB. Genotype-phenotype correspondence in Sanfilippo syndrome type B. Am J Hum Genet 1998;62:53-63.

25. Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, et al. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metabol 2008;93:104-11.

26. Jansen AC, Cao H, Kaplan P, Silver K, Leonard G, De Meirleir L, et al. Sanfilippo Syndrome Type D: Natural history and identification of 3 novel mutations in the GNS Gene. Arch Neurol 2007;64(11):1629-34.

27. Malm G, Mansson JE. Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period. Acta Paediatr 2010;99(8):1253-7.

28. Giugliani R, Federhen A, Muñoz Rojas MV, Vieira TA, Artigalás O, Pinto LL, et al. Enzyme replacement therapy for mucopolysaccharidoses I, II, and VI: recommendation from a Group of Brazilian F experts. Rev Assoc Med Bras 2010;56(3):271-7.