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[Recurrent spontaneous pneumothorax revealing Marfan's syndrome]
Z El Ouali1, N Id El Haj1, S Boubia1
1Service de chirurgie thoracique, CHU d'Ibn Rochd, Casablanca, Maroc.
Revue Des Maladies Respiratoires
|December 30, 2019
Summary
Marfan syndrome diagnosis can be delayed due to its rarity. Early diagnosis of Marfan syndrome is crucial, aided by established criteria and recognizing diverse symptoms like pneumothorax.
Area of Science:
- Medical Genetics
- Cardiovascular Medicine
- Pulmonology
Background:
- Marfan syndrome is a rare genetic disorder affecting connective tissue.
- Diagnosis can be delayed due to nonspecific symptoms and rarity.
- While cardiovascular, skeletal, and ophthalmological issues are common, respiratory involvement, such as pneumothorax, can occur.
Observation:
- A 35-year-old male presented with a large, right-sided encysted pyopneumothorax.
- He had a history of two spontaneous pneumothoraces, cataract surgery, and a family history of a similar condition.
- Clinical findings included skeletal abnormalities (wrist, thumb, hindfoot) and ocular manifestations (subluxed lens, cataract).
Findings:
- The third episode of pneumothorax prompted the diagnosis of Marfan syndrome.
- The patient's constellation of symptoms, including recurrent pneumothorax and skeletal/ocular features, was key.
- This case highlights the importance of considering Marfan syndrome in patients with respiratory complications.
Implications:
- Early diagnosis of Marfan syndrome is essential for timely management and preventing complications.
- Established diagnostic criteria (1996, revised 2010) aid in early identification.
- Recognizing diverse clinical presentations, including respiratory manifestations, is vital for improving patient outcomes.
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