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Organo oficial de la Asociación Latinoamericana de Odontopediatría (ALOP)

2021, Número 2

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Rev Odotopediatr Latinoam 2021; 11 (2)


Diagnóstico clínico y genético mucolipidosis II - enfermedad células de inclusión

Caceres MSV, Carmona ALE, Castro DÁ

Idioma: Español
Referencias bibliográficas: 30
Paginas: 293-305
Archivo PDF: 494.90 Kb.


RESUMEN

La Mucolipidosis tipo II es una enfermedad autosómica trastorno recesivo clínicamente caracterizado por la dismorfia facial y una hiperplasia gingival severa. Relato del caso: Se reporta caso de paciente de 2 años de edad, con diagnóstico de enfermedad metabólica tipo mucolipidosis II. Al examen físico se encontraron facies tosca, marcada hiperplasia gingival sintomática generalizada en maxilar superior e inferior, encías sangrantes, cuello corto, con regular sostén cefálico, piel delgada, pectus excavatus, codos normales, manos con disminución en el agarre y piel gruesa con xerosis, dificultad para elevar los brazos por encima de la cabeza, retardo global en neurodesarrollo. Siendo así, se manejó el caso de manera multidisciplinaria, permitiendo que el paciente evolucione de manera positiva al tratamiento integral, con mejoramiento en la motricidad. Conclusiones: Los fenotipos clínicos superpuestos son un desafío de diagnóstico para el personal de la salud en Odontología, especialmente en casos de mucolipidosis (ML) y trastornos mucopolisacáridos (MPS), debido a la superposición de las características clínicas.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Alfadhel M, AlShehhi W, Alshaalan H, Al Balwi M, Eyaida W. Mucolipidosis II: first report from Saudi Arabia. Ann Saudi Med 2013;33(4):382-386. DOI: 10.5144/0256-4947.2013.382.

  2. Mallen J, Highstein M, Smith L, Cheng J. Airway management considerations in children with I-cell disease. Int J Pediatr Otorhinolaryngol . 2015;79(5):760–762. DOI:10.1016/j.ijporl.2015.02.034

  3. Plante M, Claveau S, Lepage P, Lavoie E-M, Brunet S, Roquis D, et al. Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. Clin Genet. 2008; 73:236-44. DOI: 10.1111/j.1399-0004.2007.00954.x

  4. Kudo M, Brem M, Canfield W. Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAcPhosphotransferase a/b---Subunits Precursor Gene. Am J Hum Genet. 2006; 78:451-63. DOI: 10.1086/500849

  5. Tiede S, Storch S, Lübke T, Henrrisat B, Bargal R, RassRothschild A, et al. Mucolipidosis II is caused by mutations in GNPTA encoding the a/b GlcNAc-1-phosphotransferase. Nature Medicine. 2005; 11:1109-12. DOI:10.1038/nm1305.

  6. Kornfeld S, Sly W. I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. In: Scriver, CH, Beaudet A, Sly W., Valle, D. (Eds.), The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, Inc., New York, 2001; 3469–3482.

  7. Leroy JG, DeMars RI. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science . 1967; 157, 804–806.

  8. Reitman ML, Kornfeld S. UDP-N-acetylg1ucosamine: glycoproteinn-acetylglucosamine-1-phosphotransferase. J Biol Chem. 1981; 256:4275-81.

  9. Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999; 105:151.

  10. RESOLUCIÓN 430 DE 2013. Por la cual se define el listado de las enfermedades huérfanas. Bogotá – Colombia. Diario Oficial No. 48.715 de 25 de febrero de 2013.

  11. Singh A, Prasad R, Gupta AK, Sharma A, Alves S, Coutinho MF, Kapoor S, Mishra OP. I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. Indian J Pediatr. 2017;84(2):144-146. DOI: 10.1007/s12098-016-2243-7.

  12. Gowda VK, Raghavan VV, Bhat M, Benakappa A. Mucolipidosis Type II Secondary to GNPTAB Gene Deletion from India. Journal of Pediatric Neurosciences. 2017;12(1):115-116. DOI:10.4103/1817-1745.205656.

  13. Nampoothiri S, Yesodharan D, Sainulabdin G, et al. Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in southern India: a model for the diagnosis and treatment of rare diseases in a developing country. Am J Med Genet A. 2014;164A:2317–23. DOI: 10.1002/ajmg.a.36668.

  14. Coutinho MF, Santos Lda S, Girisha KM, et al. Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene. Am J Med Genet A. 2012;158A:1225–8

  15. Cury GK, Matte U, Artigalas O, Alegra, T, Velho RV, Sperb F, Burin, MG, Ribeiro EM, Lourenco CM, Kim CA, Valadares ER, Galera MF, Acosta AX, Schwartz IV. Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene. Gene. 2013;524: 59–64. DOI:org/10.1016/j.gene.2013.03.105

  16. Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N. Mucolipidosis II and III alpha/beta: Mutation analysis of 40 Japanese patients showedgenotype–phenotype correlation. J Hum Genet. 2009; 54:145–151. DOI: 10.1038/jhg.2009.3.

  17. Velho RV, De Pace R, Klünder S, Sperb-Ludwig F, Lourenco CM, Schwartz IV, Braulke T, Pohl S. Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site. Hum. Mol. Genet.2015: 24: 3497–3505. DOI: 10.1093/hmg/ddv100.

  18. Xia B, Asif G, Arthur L, Pervaiz MA, Li X, Liu R, Cummings RD, He M. Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases. Clin Chem. 2013 Sep;59(9):1357-68. doi: 10.1373. DOI: 10.1373/clinchem.2012.201053.

  19. Wappner RS. Lysosomal storage disorders. In: Oski’s Pediatrics. Principles and Practice, 4th ed, McMillan JA, Feigin RD, DeAngelis C, Jones MD (Eds), Lippincott, Williams & Wilkins, Philadelphia 2006: 2199.

  20. Morishita K, Petty RE. Musculoskeletal manifestations of Lysosomal storage disorders Rheumatology (Oxford) 2011; 50 Suppl 5:v19. DOI: 10.1093/rheumatology/ker397.

  21. Sowell J, Wood T. Towards a selected reaction monitoring mass spectrometry fingerprint approach for the screening of oligosaccharidoses. Anal Chim Acta 2011;686:102–6. DOI: 10.1016/j.aca.2010.11.047.

  22. Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M., et al. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet . 2010; 47: 38–48. DOI: 10.1136/jmg.2009.067736.

  23. Unger S, Paul DA, Nino CP, et al. Mucolipidosis II presenting as severe neonatal hyperparathyroidism. Eur J Pediatr 2005;164: 236–43. DOI:10.1007/s00431-004-1591-x

  24. Eminoglu F, Yaman A, Kendrili T, Odek C, Ucar T .Mucolipidosis type II (I-cell disease) with pulmonary hypertension and difficult airway. Mol Genet Metab 2016;117:(2):S45. DOI: https://doi.org/10.1016/j. ymgme.2015.12.253

  25. Ishak M, Zambrano E, Bazzy-Asaad A, Esquibies A. Unusual pulmonary findings in mucolipidosis II. Pediatr Pulmonol. 2012; 47(7):719–721. DOI:10.1002/ppul.21599

  26. Lynch SA, Crushell E, Lambert D, Bryne N et al. Catalogue of inherited disorders found among the Irish Traveller population. J Med Genet. 2018; 55(4):233–239. DOI:10.1136/jmedgenet-2017-104974

  27. Unger S, Paul DA, Nino CP, et al. Mucolipidosis II presenting as severe neonatal hyperparathyroidism. Eur J Pediatr 2005;164: 236–43. DOI:10.1007/s00431-004-1591-x

  28. Eminoglu F, Yaman A, Kendrili T, Odek C, Ucar T .Mucolipidosis type II (I-cell disease) with pulmonary hypertension and difficult airway. Mol Genet Metab 2016;117:(2):S45. DOI: https://doi.org/10.1016/j. ymgme.2015.12.253

  29. Ishak M, Zambrano E, Bazzy-Asaad A, Esquibies A. Unusual pulmonary findings in mucolipidosis II. Pediatr Pulmonol. 2012; 47(7):719–721. DOI:10.1002/ppul.21599

  30. Lynch SA, Crushell E, Lambert D, Bryne N et al. Catalogue of inherited disorders found among the Irish Traveller population. J Med Genet. 2018; 55(4):233–239. DOI:10.1136/jmedgenet-2017-104974




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