Síndrome de Marfan e Dissecção Carotídea Bilateral
DOI:
https://doi.org/10.34024/rnc.1999.v7.10319Palavras-chave:
Síndrome de Marfan, dissecção arterialResumo
A síndrome de Marfan é uma doença do tecido conectivo de herança autossômica dominante, que afeta os ossos, os olhos, os pulmões e o sistema cardiovascular. Relatamos o caso de um rapaz de 16 anos com síndrome de Marfan que apresentou infarto frontoparietal direito. A angiografia cerebral mostrou oclusão de artéria carótida interna esquerda e estenose da artéria carótida interna direita, com padrão de dissecção próximo à sua origem. Ressaltamos a importância de se investigar doenças do tecido conjuntivo em pacientes jovens com dissecção arterial mesmo na ausência de história familiar.
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Referências
1. Gielerak G & Wierzbicki P. Marfan's syndrome: diagnosis and treatment. Pol Merkuriusz Lek, 5(26):98-100, 1998.
2. Schievink WI, Michels VV, Piepgras DG. Neurovascular manifestations of heritable connective tissue disorders: a review. Stroke, 25:889-903, 1994.
3. Alvarez Arratia MC, Muñoz A, Martínez Camacho S, Buendía Hernández A, Attie F, Fragoso R, García Cruz D, Cantú JM. Recessive autosomal inheritance in Marfan syndrome . Arch Inst Cardiol Mex, 62(4):379-382, 1992.
4. Cerullo A; Brayda Bruno M. Neurological manifestations in Marfan's syndrome. A critical review and presentation of a case. Minerva Med, 83(5):311-318, 1992.
5. Nagatani T, Inao S, Yoshida J. Hemifacial spasm associated with Marfan's syndrome: a case report. Neurosurg Ver, 21(2-3): 152-154, 1998.
6. Cistulli PA & Sullivan CE. Sleep apnea in Marfan's syndrome. Increased upper airway collapsibility during sleep. Chest, 108(3):631-635, 1995.
7. Verbraecken JA, Willemen M, De Cock W, Coen E, Van de Heyning P, De Backer W. Obstructive sleep hypopnea syndrome in a patient with Marfan syndrome treated with oxygen therapy. Respiration, 62(6):355-358, 1995.
8. Turnball HM. Alterations in arterial structure and their relation to syphilis. Q J Med, 8:201-254, 1915.
9. Schievink WI, Björnsson J, Piepgras DG. Coexistence of fibromuscular dysplasia and cystic medial necrosis in a patient with Marfan's syndrome and bilateral carotid artery dissections. Stroke, 25:2492-2496, 1994.
10. Gott VL. Antoine Marfan and his syndrome: one hundred years later. Md Med J, 47(5):247-252, 1998.
11. Sakai LY, Keene DR, Engvall E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol, 103:2499-2509, 1986.
12. Boileau C, Collod G, Bonnet D. Contribution of genetics to pathogenicity and diagnosis of Marfan syndrome. Arch Mal Coeur Vaiss, 90(12 Suppl):1707-1712, 1997.
13. Tsipouras P, Del Mastro R, Sarfarazi M, Lee B, Vitale E, Child AH, Godfrey M, Devereux RB, Hewett D, Steinmann B et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med, 326(14):905909, 1992.
14. Ramirez F, Gayraud B & Pereira L. Marfan syndrome: new clues to genotype-phenotype correlations. Ann Med, 31(3):202-207, 1999.
15. Perez AB, Pereira LV, Brunoni D, Zatz M, Passos Bueno MR. Identification of 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief nº 211. Hum Mutat, 13(1):84, 1999.
16. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet, 62(4):417-426,1996.
17. Hashimoto K, Yata Y, Miyamoto H, Morita K, Horikoshi S, Arai T. Bilateral pneumothorax and rupture of dissecting aortic aneurysm following a mitral valve replacement in Marfan syndrome: a case report. Kyobu Geka, 45:11, 1027-1030, 1992.
18. Yellin A, Shiner RJ, Lieberman Y. Familial multiple bilateral pneumothorax associated with Marfan syndrome. Chest, 100(2):577-578, 1991.
19. Spittell PC, Spittell JA Jr, Joyce JW, Tajik AJ, Edwards WD, Schaff HV, Stanton AW. Clinical features and differential diagnosis of aortic dissections: experience with 236 cases (1980 through 1990). Mayo Clin Proc, 68:642-651, 1993.
20. Silverman DI, Burton KJ, Gray J, Bosner MS, Kouchoukos NT, Roman MJ, Boxer M, Devereux RB, Tsipouras P. Life expectancy in the Marfan syndrome. Am J Cardiol, 75(2):157160, 1995.
21. Gray JR, Bridges AB, West RR, McLeish L, Stuart AG, Dean JC, Porteous ME, Boxer M, Davies SJ. Life expectancy in British Marfan syndrome populations. Clin Genet, 54(2):124128, 1998.
2. Schievink WI, Michels VV, Piepgras DG. Neurovascular manifestations of heritable connective tissue disorders: a review. Stroke, 25:889-903, 1994.
3. Alvarez Arratia MC, Muñoz A, Martínez Camacho S, Buendía Hernández A, Attie F, Fragoso R, García Cruz D, Cantú JM. Recessive autosomal inheritance in Marfan syndrome . Arch Inst Cardiol Mex, 62(4):379-382, 1992.
4. Cerullo A; Brayda Bruno M. Neurological manifestations in Marfan's syndrome. A critical review and presentation of a case. Minerva Med, 83(5):311-318, 1992.
5. Nagatani T, Inao S, Yoshida J. Hemifacial spasm associated with Marfan's syndrome: a case report. Neurosurg Ver, 21(2-3): 152-154, 1998.
6. Cistulli PA & Sullivan CE. Sleep apnea in Marfan's syndrome. Increased upper airway collapsibility during sleep. Chest, 108(3):631-635, 1995.
7. Verbraecken JA, Willemen M, De Cock W, Coen E, Van de Heyning P, De Backer W. Obstructive sleep hypopnea syndrome in a patient with Marfan syndrome treated with oxygen therapy. Respiration, 62(6):355-358, 1995.
8. Turnball HM. Alterations in arterial structure and their relation to syphilis. Q J Med, 8:201-254, 1915.
9. Schievink WI, Björnsson J, Piepgras DG. Coexistence of fibromuscular dysplasia and cystic medial necrosis in a patient with Marfan's syndrome and bilateral carotid artery dissections. Stroke, 25:2492-2496, 1994.
10. Gott VL. Antoine Marfan and his syndrome: one hundred years later. Md Med J, 47(5):247-252, 1998.
11. Sakai LY, Keene DR, Engvall E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol, 103:2499-2509, 1986.
12. Boileau C, Collod G, Bonnet D. Contribution of genetics to pathogenicity and diagnosis of Marfan syndrome. Arch Mal Coeur Vaiss, 90(12 Suppl):1707-1712, 1997.
13. Tsipouras P, Del Mastro R, Sarfarazi M, Lee B, Vitale E, Child AH, Godfrey M, Devereux RB, Hewett D, Steinmann B et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med, 326(14):905909, 1992.
14. Ramirez F, Gayraud B & Pereira L. Marfan syndrome: new clues to genotype-phenotype correlations. Ann Med, 31(3):202-207, 1999.
15. Perez AB, Pereira LV, Brunoni D, Zatz M, Passos Bueno MR. Identification of 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief nº 211. Hum Mutat, 13(1):84, 1999.
16. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet, 62(4):417-426,1996.
17. Hashimoto K, Yata Y, Miyamoto H, Morita K, Horikoshi S, Arai T. Bilateral pneumothorax and rupture of dissecting aortic aneurysm following a mitral valve replacement in Marfan syndrome: a case report. Kyobu Geka, 45:11, 1027-1030, 1992.
18. Yellin A, Shiner RJ, Lieberman Y. Familial multiple bilateral pneumothorax associated with Marfan syndrome. Chest, 100(2):577-578, 1991.
19. Spittell PC, Spittell JA Jr, Joyce JW, Tajik AJ, Edwards WD, Schaff HV, Stanton AW. Clinical features and differential diagnosis of aortic dissections: experience with 236 cases (1980 through 1990). Mayo Clin Proc, 68:642-651, 1993.
20. Silverman DI, Burton KJ, Gray J, Bosner MS, Kouchoukos NT, Roman MJ, Boxer M, Devereux RB, Tsipouras P. Life expectancy in the Marfan syndrome. Am J Cardiol, 75(2):157160, 1995.
21. Gray JR, Bridges AB, West RR, McLeish L, Stuart AG, Dean JC, Porteous ME, Boxer M, Davies SJ. Life expectancy in British Marfan syndrome populations. Clin Genet, 54(2):124128, 1998.
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1999-09-30
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Síndrome de Marfan e Dissecção Carotídea Bilateral . (1999). Revista Neurociências, 7(3), 145-148. https://doi.org/10.34024/rnc.1999.v7.10319
