Pneumotórax espontâneo – A pista para outro diagnóstico

 

Susana Rocha ¹

Luísa Pereira ²

Celeste Barreto ³

 

 

Resumo

A síndroma de Marfan é uma doença do tecido conjuntivo de transmissão autossómica dominante, com manifestações esqueléticas, oculares e cardiovasculares típicas.

Com menor frequência, verifica -se envolvimento pulmonar, nomeadamente pneumotórax espontâneo. Este é habitualmente recorrente, surgindo em 4 -11% dos casos.

Descreve -se um adolescente de 14 anos, sem diagnóstico anterior de doença, internado por pneumotórax espontâneo unilateral, com fenótipo de síndroma de Marfan. A investigação subsequente conduziu ao diagnóstico de prolapso da válvula mitral e dilatação da raiz da aorta. Houve resolução do pneumotórax através de drenagem activa e excluíram -se, por tomografia computorizada, lesões bolhosas subpleurais. O doente foi reinternado, dois meses depois, por novo pneumotórax espontâneo, com idêntica localização, procedendo -se a ressecção cirúrgica de bolha

enfisematosa então identificada e pleurodese. Dois anos depois encontra-se assintomático.

Realça -se a importância do diagnóstico precoce e acompanhamento multidisciplinar destes doentes.

A monitorização da progressão da doença e a prevenção de complicações graves, nomeadamente cardiovasculares, são imprescindíveis.

Palavras -chave: Pneumotórax espontâneo, síndroma de Marfan, diagnóstico, terapêutica.

 

 

Spontaneous pneumothorax – a clue to another diagnosis

Abstract

Marfan syndrome is an autosomal dominant illness of the connective tissue, with typical skeletal, ocular and cardiovascular manifestations. Less frequently, pulmonary involvement occurs, namely spontaneous pneumothorax, which generally is recurrent and occurs in 4 -11% of cases.

The authors describe a 14 -year -old boy, previously healthy, admitted with a unilateral spontaneous pneumothorax, and clinical phenotype of Marfan syndrome. The subsequent investigation led to the diagnosis of mitral valve prolapse and dilatation of the root of aorta. Pneumothorax resolved through active drainage and a computerised tomography scan excluded subpleural blebs. The patient was readmitted two months later with a new spontaneous pneumothorax, with an identical localization. Surgical resection of a newly identified enfisematous bleb and pleurodesis were performed. Two years later he is asymptomatic.

We highlight the importance of an early diagnosis of and a multidisciplinary approach to these patients.

Monitoring illness progression and prevention of serious complications, namely cardiovascular, are essential.

Key-words: Spontaneous pneumothorax, Marfan syndrome, diagnosis, management.

 

 

Texto completo disponível apenas em PDF.

Full text only available in PDF format.

 

 

Bibliografia

1. Dean JCS. Marfan syndrome: clinical diagnosis and management. European Journal of Human Genetics 2007; 15:724 -33.        [ Links ]

2. Collod -Béroud G, Boileau C. Marfan syndrome in the third Millennium. European Journal of Human Genetics 2002; 10:673 -81.

3. Ho NCY, Tran JR, Bektas A. Marfan’s syndrome. Lancet 2005; 366:1978 -81.

4. Dietz H, Cutting G, Pyeritz R, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352:337 -9.

5. Boileau C, Jondeau G, Mizuguchi T, Matsumoto N. Molecular genetics of Marfan syndrome. Current Opinion

in Cardiology 2005; 20:194 -200.

6. De Paepe A, Devereux RB, Dietz HC, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62:417 -26.

7. Committee on Genetics. Health Supervision for Children With Marfan Syndrome, Pediatrics 1996; 98:978 -82.

8. Dean John CS. Management of Marfan Syndrome. Heart 2002; 88:97 -103.

9. Firth HV, Hurst JA. Marfan syndrome. In Oxford Desk Reference Clinical Genetics 2005, Oxford University Press, New York. 380 -3.

10. Dwyer EM, Troncale F. Spontaneous Pneumothorax and Pulmonary Disease in the Marfan Syndrome. Annals of Internal Medicine 1965; 62(6):1285 -92.

11. Gawkrodger D. Marfan’s syndrome presenting as bilateral spontaneous pneumothorax. Postgraduate Medical Journal 1981; 57:240 -1.

12. Hall JR, Pyeritz RE, Dudgeon DL, Haller JA. Pneumothorax in the Marfan Syndrome: Prevalence and Therapy. The Annals of Thoracic Surgery 1984; 37(6):500 -4.

13. Orenstein DM. Pneumothorax. In: Behrman RE, Kliegman RM, Jenson HB (Eds.). Nelson Textbook of Pediatrics 16th ed. Philadelphia: WB Saunders Company, 2000:1331 -2.

14. Wood JR, Bellamy D, Child AH, Citron KM. Pulmonary disease in patients with Marfan syndrome. Thorax 1984; 39:780 -4.

15. Dinwiddie R, Sonnappa S. Systemic diseases and the lung. Pediatric Respiratory Reviews 2005; 6:181 -9. 16. Henry M, Arnold T, Harvey J. BTS guidelines for the management of spontaneous pneumothorax. Thorax 2003; 58:39 -52.

17. Rigante D, Segni G, Bush A. Persistent spontaneous pneumothorax in an adolescent with Marfan’s Syndrome and Pulmonary Bullous Dysplasia. Respiration 2001; 68:621 -4.

 

 

 

1 Interna do Internato Complementar de Pediatria

2 Assistente Hospitalar Graduada de Pediatria

3 Chefe de Serviço de Pediatria

Unidade de Pneumologia Pediátrica, Serviço de Pediatria do Hospital de Santa Maria

Director: Prof. Doutor Gomes-Pedro

Avenida Professor Egas Moniz 1649-035 Lisboa

 

Recebido para publicação/received for publication: 08.04.01

Aceite para publicação/accepted for publication: 08.05.12