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2015, Número 2

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Acta Pediatr Mex 2015; 36 (2)


Preescolar masculino con Síndrome Prader-Willi y tromboembolia pulmonar

Padrón-Martínez M, Partida-Gaytán A, Ridaura-Sánz C

Idioma: Español
Referencias bibliográficas: 23
Paginas: 105-113
Archivo PDF: 829.44 Kb.


FRAGMENTO

RESUMEN CLÍNICO

El paciente fue referido a los 20 días de vida por aumento de perímetro cefálico, separación de suturas, síndrome dismórfico y problemas en la alimentación con ahogamiento, cianosis, llanto débil y estridor laríngeo desde el nacimiento.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Tauber M, Diene G, Molinas C, He´bert M. 2008. Review of 64 cases of death in children with Prader–Willi syndrome (SPW). Am J Med Genet Part A 146A:881–887.

  2. Butler MG. 1990. Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet 35:319-332.

  3. Hertz G, Cataletto M, Feinsilver SH, Angulo M. 1993. Sleep and breathing patterns in patients with Prader Willi syndrome (SPW): effects of age and gender. Sleep 16:366-371.

  4. Stephen F Kemp, J Paul Frindik. Emerging options in growth hormone therapy: an update. Drug Des Devel Ther 2011;5:411–419.

  5. Donald G. Goranson, Jr. Growth Hormone and Prader Willy Syndrome. Second Edition. A reference for families and care providers. Prader-Willy Syndrome Association 2011. pp. 7-8.

  6. Dong Kyu Jin. Systematic review of the clinical and genetic aspects of Prader-Willi syndrome. Korean J Pediatr 2011;54(2):55–63.

  7. Deal CL, Tony M, Höybye C, Allen DB, Tauber M, Christian- sen JS, et al. Growth Hormone Research Society workshop summary: consensus guidelines for recombinant human growth. 98(6):E1072–E1087.

  8. Yea Ji Kim, Chong Kun Cheon. Prader-Willi syndrome: a single center's experience in Korea. Korean J Pediatr 2014;57(7):310–316.

  9. Whittington JE, Holland AJ, Webb T, Butler J, Clarke D, Boer H: Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region. J Med Genet 2001;38:792–798.

  10. Einfeld SL., Kavanagh SJ, Smith A, Evans EJ, Tonge BJ, Taffe J. Mortality in Prader-Willi Syndrome. Am J Ment Retard. 2006;111(3):193–198.

  11. Eiholzer U. Deaths in Children with Prader-Willi Syndrome. Horm Res 2005;63:33–39.

  12. Zellweger H, Schneider HJ. Syndrome of hypotonia- hypomentiahypogonadism-obesity (HHHO) or Prader–Willi syndrome. Amer J Dis Child 1968;115:588–598.

  13. Bray GA, Dahms WT, Swerdloff RS, Fiser RH, Atkinson RL, Carrel RE. The Prader-Willi syndrome: a study of 40 pa- tients and a review of the literature. Medicine (Baltimore) 1983;62(2):59-80.

  14. Stevenson DA, Anaya TM, Clayton-Smith J, Hall BD, Van Allen MI, Zori RT & Clericuzio CL. Unexpected death and critical illness in Prader–Willi syndrome: report of ten individuals. American Journal of Medical Genetics Part A 2004;24(2):158-164.

  15. de Lind van Wijngaarden RFA, Otten BJ, Festen DAM, Joosten KFM, de Jong FH, Sweep FCGJ, Hokken-Koelega ACS. Central Adrenal Insufficiency in SPW patients. J Clin Endocrinol Metab 2008;93(5):1649-1654.

  16. Schrander-Stumpel CT, Curfs LM, Sastrowijoto P, Cassidy SB, Schrander JJ, Fryns JP. Prader-Willi syndrome: causes of death in an international series of 27 cases. Am J Med Genet A 2004;124A:333-8.

  17. Ridaura-Sanz C. Ovando-Fonseca JE, López-Corella E. Tromboembolia pulmonar fatal en la edad pediátrica. Memorias de la CII Reunión Reglamentaria AIP Junio. 2006. pp. 75-85.

  18. Heit JA, Silversten MD, Mohr DN, Petterson TM, O’Fallon WM, Melton LJ. Risk Factors for Deep Vein Thrombosis and Pulmonary Embolism. A population-based Case-control study. Arch Intern Med 2000;160:809-815.

  19. Sandoval JA, Sheehan MP, Stonerock CE, Shafique S, Rescorla FJ, Dalsing MC. Incidence, risk factors, and treatment patterns for deep venous thrombosis in hospitalized children: an increasing population at risk. J Vasc Surg 2008;47:837–843.

  20. Biss TT, Brandao LR, Kahr WH, Chan AK, Williams S. Clinical features and outcome of pulmonary embolism in children. Br J Haematol 2008;142:808–818.

  21. Vu LT, Nobuhara KK, Lee H, Farmer DL. Determination of risk factors for deep venous thrombosis in hospitalized children. J Pediatr Surg 2008;43:1095–1099.

  22. Kim SJ, Sabharwal S. Risk factors for venous thromboembolism in hospitalized children and adolescents: a systemic review and pooled analysis. J Pediatr Orthop B 2014;23(4):389-393.

  23. Grzmil P1, Konietzko J, Boehm D, Hölter SM, Aguilar-Pimentel A, Javaheri A, et al. Targeted disruption of the mouse Npal3 gene leads to deficits in behavior, increased IgE levels, and impaired lung function. Cytogenet Genome Res 2009;125(3):186-200. doi: 10.1159/000230003. Epub 2009 Sep 4.




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