medigraphic.com

2002, Number 4

<< Back Next >>

Rev Med Hosp Gen Mex 2002; 65 (4)

Marfan's syndrome. Clinical and pathological correlation in three cases of autopsy

Padilla RAL, Rodríguez RAA González ML, Gutiérrez DCME, Olvera RJE

Language: Spanish
References: 23
Page: 213-219
PDF size: 150.98 Kb.


ABSTRACT

Marfan syndrome is a heritable disorder of connective tissue due to fibrillin gene mutations, essential component of the elastic fibers. Cardiovascular, skeletal and ocular anomalies are the most common clinical manifestations. We report three autopsy cases of Marfan syndrome in adults. They were two men and a woman with marfanoid phenotype with long extremities, specially the lower ones, dolicocephally, pectum excavatum, arachnodactily in hands and feet, who complained of progressive dyspnea and edema in the lower extremities. Two cases had aneurysm dilatation of the aorta with dissection from the root to the abdominal aorta, one of them with rupture, another case only had dilatation of the root of the aorta, all cases had aortic insufficiency, dilatation of the four heart chambers and congestion of the lungs and liver. One case had dorsal scoliosis and subluxation of the lens. All had aortic cystic degeneration. The cases with dissecting aneurysm died suddenly, one due to rupture and the other because of massive extravasation of blood within the aortic wall. In the third case death was attributed to heart failure. Marfan´s syndrome complications are usually lethal, nevertheless they can be identified early by an appropriate follow-up of these patients.


REFERENCES

  1. Risdall JR, McKenna WR, Nesbit EM, Krivit W, Balfour Jr HH, Simmons LR et al. Virus- associated hemophagocytic syndrome. Cancer 1979; 44: 993-1002.

  2. Aouad A, Dan EM, Alangade JG. Diagnosis: Reactive hemophagocytic syndrome caused by CMV infection. Clin Infect Dis 1998; 26: 1295.

  3. Wong FK, Chan CKJ, Ha YS, Wong WH. Reactive hemophagocytic syndrome in childhood- frequent occurrence of atypical mononuclear cells. Hematol Oncol 1994; 12: 67-74.

  4. Herrero HA, Ramíres JS, García ME, Martínez VA. Síndromes hemofagocíticos. An Esp Pediatr 1998; 49: 230-236.

  5. Osugi Y, Hara J, Tagawa S, Takai K, Hosoi G, Matsuda Y, Fujisaki H et al. Cytokine production regulating Th1 and Th2 cytokines in hemophagocytic lymphohistiocytosis. Blood 1997; 11: 4100-4103.

  6. Cline MJ. Histiocytes and histiocytosis. Blood 1994; 84: 2840-53.

  7. Frenkel SM, Bolea MV, Durán Padilla MA. Síndrome hemofagocítico en pediatría. An Med Asoc Med Hosp ABC 2001; 46: 137-141.

  8. Manivel RC, Jessurum SJ, Rodríguez MA. Histiocitosis reactiva hemofagocítica. Patología 1983; 21: 175-186.

  9. Janka G, Imashuku S, Elinder G, Schneider M, Henter J. Infection and malignancy associated hemophagocytic syndromes. Hematol Oncol Clin North Am 1998; 12: 67-74.

  10. García JDD, Guijarro HC, Abarca CM, Guerra Vales JM, Histiocitosis reactiva, hemofagocitosis histiocítica y síndromes hemofagocíticos. Rev Clin Esp 1990; 186: 193-194.

  11. Favara EB. Hemophagocytic limphohistiocytosis: A hemophagocytic syndrome. Semin Diagnosis Pathol 1992; 9: 63-74.

  12. Kerguenec C, Hillaire S, Moliné V, Gardin C, Degott C, Erlinger S et al. Hepatic manifestations of hemophagocytic syndrome: A study of 30 cases. Am J Gastroenterol 2001; 96: 852-857.

  13. Allory A, Challine D, Haioun C, Bergman CC, Delfau LHM, Boucher E. Bone marrow involvement in lymphomas with hemophagocytic syndrome at presentation. Am J Surg Pathol 2001; 25: 865-874.

  14. Takasaki N, Kaneko Y, Maseki N, Sakura M, Shimamura K, Takayama S. Hemophagocytic syndrome complicating T- cell acute lymphoblastic leukemia with a novel t(11; 14) (p 15; q11) chromosome translocation. Cancer 1987; 59: 424-428.

  15. Jaffe SE, Costa J, Fauci SA, Cossman J, Tsokos M. Malignant lymphoma and erythrophagocytosis simulating malignant histiocytosis. Am J Med 1983; 75: 741-49.

  16. 16 Chan CKJ, Law KC, Wong FK. Reactive hemophagocytic syndrome: A study of 7 fatal cases. Pathology 1987; 19: 43-50.

  17. Astigarra AI, Fernandez TA, García PN , Piña FMA, Navajas GA. Síndrome hemofagocítico en la infancia: A propósito de 4 casos. An Esp Pediatr 1998; 49: 289–293.

  18. Falini B, Pileri S, De Solas I, Martelli MF, Mason DY, Delsol G et al. Peripheral T cell Lymphoma Associated with Hemophagocytic Syndrome. Blood 1990; 75: 434–444.

  19. 19 Mroczek CE, Weisenburger DD, Grierson LH, Markin R, Purtilo T D. Fatal infectious mononucleosis and virus associated hemophagocytic syndrome. Arch Pathol Lab Med 1987; 111: 530-535.

  20. Fisman N D. Hemophagocytic syndromes and infection. Emerg Infect Dis 2000; 6: 601-608.

  21. Imashuku S, Hibi S, Ohara T, Iwai A, Sako M, Kato M et al. Effective control of Epstein- Barr virus- related hemophagocytic lymphohistiocytosis with immunochemotherapy. Blood 1999; 93: 1869-1874.

  22. Kikuta H, Sakiyama Y, Matsymoto S, Oh-Ishi T, Nakano T, Nagashima T et al. Fatal Epstein-Barr virus associated hemophagocytic syndrome. Blood 1993; 82: 3259-3264.

  23. Imashuku S, Hibi S, Todo S. Hemophagocytic lymphohistiocytosis in infancy and childhood. J Pediatr 1997; 130: 352-357.




2020     |     www.medigraphic.com