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2012, Number 3

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Rev Méd Electrón 2012; 34 (3)

Neurofibromatosis type 1 and pregnancy: considerations on a clinical case

Rodríguez DPL, Hernández SD

Language: Spanish
References: 48
Page:
PDF size: 40.58 Kb.


ABSTRACT

We present the case of a pregnant woman, aged 27 years old, with neurofibromatosis type 1, diagnosed pre-conceptionally, who was attended at the Family Doctor´s consultation 80, of the Teaching Policlinic Milanes, of Matanzas. Pregnancy finished at the 39 week, in a spontaneous transpelvic birth, bearing a 2 850 grams new born, with good Apgar score, and with a satisfactory evolution of the binomial mother-child. We reviewed the universal literature on the disease, highlighting the potential risks for mother and child, with the objective of allowing the health professionals working at the primary health care level to recognize the importance of this entity for the Infant-Maternal Care Program, even when it is not very frequent.


REFERENCES

  1. Friedman JM. Neurofibromatosis 1. Gene Reviews. University of Washington at Seattle; 2009. PubMed; PMID:12403552

  2. Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6(4): 340-51. PubMed; PMID: 17362838

  3. Gabriele AL, Ruggieri M, Patitucci A, Magariello A, Conforti FL, Mazzei R, et al. A novel gene mutation in an italian family with neurofibromatosis type 1. Childs Nervs Syst. 2011;27(4):635-38. PubMed; PMID: 20927530.

  4. Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis type 1 revisted. Pediatrics. 2009;123(1):123-33. PubMed; PMID: 19117870.

  5. Evans G, Poulsen R, Mardones C. Enfermedad de Von Recklinghausen y embarazo. Rev Chil Obstet Ginecol [Internet]. 2002 [citado 12 Ene 2012]; 67(2):153-56. Disponible en: http://www.scielo.cl/pdf/rchog/v67n2/art14.pdf.

  6. Estrella V, Barraza S, Sánchez A, Fernández Bussy RA. Piel y embarazo. Rev Argent Dermatol [Internet]. 2006 [citado 12 Ene 2012];87(4):264-77. Disponible en: http://www.scielo.org.ar/scielo.php?pid=S1851-300X2006000300004&script=sci_arttext.

  7. Kosec V, Marton I. Neurofibromatosis type 1 in pregnancy. Coll Antropol. 2006;30(1):247-9. PubMed; PMID: 16617607.

  8. Nelson DB, Greer L, Wendel G. Neurofibromatosis and pregnancy. Obstet Gynecol. 2010;116(Supl 2):507-9. PubMed; PMID: 20664435.

  9. Gresham DD, Braunlin JL, Vuckovich SK. Caring for the pregnant woman with neurofibromatosis. MCN Am J Matern Child Nurs. 2010;35(1):18-23. PubMed; PMID: 20032755.

  10. Roth TM, Petty EM, Barald KF. The role of steroid hormones in the neurofibromatosis type 1 phenotype: focus on pregnancy. Am J Med Genet A. 2008;146A(12):1624-33. PubMed; PMID: 18481270.

  11. Kellogg A, Watson WI. Malignant Schwannoma in pregnancy: a case report and literature review. Am J Perinatol. 2010;37(3):201-4. PubMed; PMID: 19688672.

  12. Karcioglu ZA, Haik BG. Eye, orbit and adnexal structures. En: Abeloff MD, Armitage JO, Niederhuber JE. Clinical Oncology. 4th ed. Philadelphia: Elsevier Churchill Livingstone; 2008.

  13. Ducray F, Colin P, Cartalat-Carel S, Pelissou-Guyotat I, Mahla K, Audra P, et al. Management of malignant gliomas diagnosed during pregnancy. Rev Neurol. 2006;162(3):322-9. PubMed; PMID: 19688672.

  14. Sharif S, Moran A, Huson SM, Iddenden R, Shenton A, Howard E, et al. Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet. 2007;44(8):481-4. PubMed; PMID: 17369502.

  15. Harroudi T, Tijami F, Otmany A, Jalil A. Breast cancer associated with Type 1 Neurofibromatosis. J Gynecol Surg [Internet]. 2010 [citado 12 Ene 2012];26(3):223-25. Disponible en: http://online.liebertpub.com/doi/full/10.1089/gyn.2009.0070.

  16. Fotaki P, Michailidis E, Vitoratos N, Deligeoroglou E, Kokkalis D, Creatsas G. Von Recklinghausen’s disease and pregnancy. Akush Ginekol. 2002;42(1):15-6. PubMed; PMID: 11935690.

  17. Agarwal V, Dahiya P, Sangwan K. Recent onset neurofibromatosis complicating eclampsia with maternal death: a case report. Arch Gynecol Obstet. 2003;268(3):241-2. PubMed; PMID: 14653252.

  18. Wiznitzer A, Katz M, Mazor M, Pinku A, Hagay ZJ. Neurofibromatosis in pregnancy. Four case reports and review of the literature. Isr Med Sci. 1986;22(7-8):579-81. PubMed; PMID: 3096908.

  19. Hagymásy L, Tóth M, Szücs N, Rigó J Jr. Neurofibromatosis type 1 with pregnancy associated renovascular hypertension and the Syndrome of hemolysis, elevated liver enzymes and low platelets. Am J Obstet Gynecol. 1998;179(1):272-4. PubMed; PMID: 9704804.

  20. Chaieb A, Marzouk A, Kaabar H, Chelli M. Von Recklinghausen’s neurofibromatosis and pregnancy. A propos of a case. J Gynecol Obstet Biol Reprod. 1989;18(5):657-60. PubMed; PMID: 2509543.

  21. Ben Aissia N, Sadfi A, Roissi S, Gara MF. The association of Recklinghausen’s disease and pregnancy. Report of 6 cases. Tunis Med. 2004;82(10):976-9. PubMed; PMID: 15686197.

  22. Heredia Ruiz A, González Saavedra JA, Sánchez Martínez MF, Vergara Maide ME, Farfán Aguilar JC. Neurofibromatosis y embarazo con resultados de muerte fetal: caso clínico. Progresos de Obst y Ginec [Internet]. 2007 [citado 12 Ene 2012];50(6):355-9. Disponible en: http://dialnet.unirioja.es/servlet/articulo?codigo=2308011.

  23. Terzi YK, Oguzkan-Balci S, Anlar B, Aysun S, Guran S, Ayter S. Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling. Genet Couns. 2009;20(2):195-202. PubMed; PMID: 19650418.

  24. Díaz Castillejos A, Zottis Grapiglia C, Acunha M, Verissino D, Rehder R. Vasculopatía cerebral en neurofibromatosis 1. Rev Mex Neuroci. 2010;11(6):487-92.

  25. Friedman JM. Neurofibromatosis 1. Gene Reviews. University of Washington at Seattle; 2009. PubMed; PMID:12403552

  26. Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6(4): 340-51. PubMed; PMID: 17362838

  27. Gabriele AL, Ruggieri M, Patitucci A, Magariello A, Conforti FL, Mazzei R, et al. A novel gene mutation in an italian family with neurofibromatosis type 1. Childs Nervs Syst. 2011;27(4):635-38. PubMed; PMID: 20927530.

  28. Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis type 1 revisted. Pediatrics. 2009;123(1):123-33. PubMed; PMID: 19117870.

  29. Evans G, Poulsen R, Mardones C. Enfermedad de Von Recklinghausen y embarazo. Rev Chil Obstet Ginecol [Internet]. 2002 [citado 12 Ene 2012]; 67(2):153-56. Disponible en: http://www.scielo.cl/pdf/rchog/v67n2/art14.pdf.

  30. Estrella V, Barraza S, Sánchez A, Fernández Bussy RA. Piel y embarazo. Rev Argent Dermatol [Internet]. 2006 [citado 12 Ene 2012];87(4):264-77. Disponible en: http://www.scielo.org.ar/scielo.php?pid=S1851-300X2006000300004&script=sci_arttext.

  31. Kosec V, Marton I. Neurofibromatosis type 1 in pregnancy. Coll Antropol. 2006;30(1):247-9. PubMed; PMID: 16617607.

  32. Nelson DB, Greer L, Wendel G. Neurofibromatosis and pregnancy. Obstet Gynecol. 2010;116(Supl 2):507-9. PubMed; PMID: 20664435.

  33. Gresham DD, Braunlin JL, Vuckovich SK. Caring for the pregnant woman with neurofibromatosis. MCN Am J Matern Child Nurs. 2010;35(1):18-23. PubMed; PMID: 20032755.

  34. Roth TM, Petty EM, Barald KF. The role of steroid hormones in the neurofibromatosis type 1 phenotype: focus on pregnancy. Am J Med Genet A. 2008;146A(12):1624-33. PubMed; PMID: 18481270.

  35. Kellogg A, Watson WI. Malignant Schwannoma in pregnancy: a case report and literature review. Am J Perinatol. 2010;37(3):201-4. PubMed; PMID: 19688672.

  36. Karcioglu ZA, Haik BG. Eye, orbit and adnexal structures. En: Abeloff MD, Armitage JO, Niederhuber JE. Clinical Oncology. 4th ed. Philadelphia: Elsevier Churchill Livingstone; 2008.

  37. Ducray F, Colin P, Cartalat-Carel S, Pelissou-Guyotat I, Mahla K, Audra P, et al. Management of malignant gliomas diagnosed during pregnancy. Rev Neurol. 2006;162(3):322-9. PubMed; PMID: 19688672.

  38. Sharif S, Moran A, Huson SM, Iddenden R, Shenton A, Howard E, et al. Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet. 2007;44(8):481-4. PubMed; PMID: 17369502.

  39. Harroudi T, Tijami F, Otmany A, Jalil A. Breast cancer associated with Type 1 Neurofibromatosis. J Gynecol Surg [Internet]. 2010 [citado 12 Ene 2012];26(3):223-25. Disponible en: http://online.liebertpub.com/doi/full/10.1089/gyn.2009.0070.

  40. Fotaki P, Michailidis E, Vitoratos N, Deligeoroglou E, Kokkalis D, Creatsas G. Von Recklinghausen’s disease and pregnancy. Akush Ginekol. 2002;42(1):15-6. PubMed; PMID: 11935690.

  41. Agarwal V, Dahiya P, Sangwan K. Recent onset neurofibromatosis complicating eclampsia with maternal death: a case report. Arch Gynecol Obstet. 2003;268(3):241-2. PubMed; PMID: 14653252.

  42. Wiznitzer A, Katz M, Mazor M, Pinku A, Hagay ZJ. Neurofibromatosis in pregnancy. Four case reports and review of the literature. Isr Med Sci. 1986;22(7-8):579-81. PubMed; PMID: 3096908.

  43. Hagymásy L, Tóth M, Szücs N, Rigó J Jr. Neurofibromatosis type 1 with pregnancy associated renovascular hypertension and the Syndrome of hemolysis, elevated liver enzymes and low platelets. Am J Obstet Gynecol. 1998;179(1):272-4. PubMed; PMID: 9704804.

  44. Chaieb A, Marzouk A, Kaabar H, Chelli M. Von Recklinghausen’s neurofibromatosis and pregnancy. A propos of a case. J Gynecol Obstet Biol Reprod. 1989;18(5):657-60. PubMed; PMID: 2509543.

  45. Ben Aissia N, Sadfi A, Roissi S, Gara MF. The association of Recklinghausen’s disease and pregnancy. Report of 6 cases. Tunis Med. 2004;82(10):976-9. PubMed; PMID: 15686197.

  46. Heredia Ruiz A, González Saavedra JA, Sánchez Martínez MF, Vergara Maide ME, Farfán Aguilar JC. Neurofibromatosis y embarazo con resultados de muerte fetal: caso clínico. Progresos de Obst y Ginec [Internet]. 2007 [citado 12 Ene 2012];50(6):355-9. Disponible en: http://dialnet.unirioja.es/servlet/articulo?codigo=2308011.

  47. Terzi YK, Oguzkan-Balci S, Anlar B, Aysun S, Guran S, Ayter S. Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling. Genet Couns. 2009;20(2):195-202. PubMed; PMID: 19650418.

  48. Díaz Castillejos A, Zottis Grapiglia C, Acunha M, Verissino D, Rehder R. Vasculopatía cerebral en neurofibromatosis 1. Rev Mex Neuroci. 2010;11(6):487-92.




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