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2012, Number 2

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Mediciego 2012; 18 (2)

Pregnant with duchenne's Muscular Dystrophy. A case report

Álvarez LR, Casas DCM, Lima RU

Language: Spanish
References: 12
Page:
PDF size: 183.70 Kb.


ABSTRACT

A case of a 18 years old pregnant woman is reported with Duchenne's Muscular Dystrophy with clinical examination, hematic complementary, electromyography, and muscle biopsy, that arrived with pregnancy of approximately 18 weeks associated to respiratory that it solves with antibiotic combination and has evolved until the 37 weeks with little symptoms of respiratory difficulty, thin with evident muscular atrophies to proximal predominance, 4/6 proximal generalized weakness and distal 5/6, generalized osteotendinous hyporreflexia, dysphonia and sometimes discreet dysphagia. An elective caesarean was carried out with good state for the mother; the fetus was feminine with aggar 9/9 and 2550 grams of weight.


REFERENCES

  1. Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Muscular dystrophies. En: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, editor. Nelson Textbook of Pediatrics. 186 ed. Philadelphia: Saunders; 2007. p. 608-629.

  2. Braunwald E, Fauci AS, Kasper DL, Hauser SL, Longo DL, Jameson JL. Harrison’s Principles of Internal Medicine. 21 ed. New York: McGraw-Hill Professional; 2011.

  3. Reporte consensuado basado en los procedimientos del Encuentro de Expertos en Rottterdam, 7 y 8 de Noviembre en 2007. Neuromusc Dis. 2008; 8: 213-19.

  4. Chamberlain J. Gene therapy of muscular dystrophy. Hum Molec Genet. 2002; 11(20): 2355-2362.

  5. Onengut S, Kavaslar GN, Battaloglu E, Serdaroglu P, Deymeer F, Ozdemir C, et al. Deletion pattern in the dystrophic gene in Turks and a comparison with Europeans and Indians. Ann Hum Genet. 2000; 64(Pt 1):33-40.

  6. Avaria MA, KleinsteuberK, Herrera L, Carvallo P. Tardanza en el diagnóstico de la distrofia muscular de Duchenne en Chile. Rev Méd Chile. 1999; 127: 65-70.

  7. Martigne L, Salleron J, Mayer M, Cuisset JM, Carpentier A, Neve V, et al. Natural evolution of weight status in Duchenne muscular dystrophy: a retrospective audit. Br J Nutr [Internet]. 2011 [citado 12 Abr 2012]; 105(10):1486-91. Disponible en: http://preview.ncbi.nlm.nih.gov/pubmed/21272404

  8. Santos Bonfim MA, Costa de Assis F, Travessa Ferreira A, Bombig Nogueira MT, Fonseca Helfenstein F, Luna Braulio F, et al. Distrofia muscular de Duchenne: análisis electrocardiográfico de 131 pacientes. Arq Bras Cardiol [Internet]. 2010 [citado 12 Abr 2012]; 94(5): 620-624. Disponible en: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066- 782X2010000500008&lng=en

  9. Cammarata Scalisi F, Camacho N, Alvarado J, Lacruz Rengel MA. Distrofia muscular de Duchenne, presentación clínica. Rev Chil Pediatr [Internet]. 2008 [citado 12 Abr 2012]; 79(5): 495-501. Disponible en: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41062008000500007&lng=es

  10. Bo Lyun L, Hyun Nam S, Hwa Lee J, Seok Ki C, Lee M, Lee J. Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne. Korean Med Sci [Internet]. 2011 [citado 12 Feb 2012]; 27(3):274–280. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3286774/

  11. Li S, Li Q, Chen X, Liu W, Sunzhanhui Ou X. Duchenne Muscular Dystrophy in a Female Patient with a Karyotype of 46,x,i(x)(q10). Tohoku J Experim Med [Internet]. 2010 [citado 12 Feb 2012]; 22(2):149-153. Disponible en: http://www.jstage.jst.go.jp/article/tjem/222/2/222_149/_article

  12. Álvarez de la Campa GH. Asesoramiento genético preconcepcional a familia con hijo afectado de Distrofia Muscular de Duchenne. Rev Méd Electrón [Internet]. 2009 [citado 12 Feb 2012]; 31(1): [aprox. 12 p]. Disponible en: http://www.revmatanzas.sld.cu/revista%20medica/ano%202009/vol1%202009/tema11.htm




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