Abstract
Two cases of spontaneous pneumothorax with Marfan syndrome are reported.
The first patient, a 22-year-old man, was admitted to Keio University Hospital with diagnosis of right pneumothorax.
The patient was of tall, thin habitus with long tapered extremities. Kyphoscoliosis, arachnodactyly and high-arched palate were the obvious skeletal malformations that were present. The lenses were normal. Family histoty revealed that in the case of a younger sister was of thin habitus and heart disease, Marfan syndrome had been diagnosed. Aortography showed dissection of the aorta, and aortic insufficiency. A diagnosis of Marfan syndrome was established on the basis of characteristic skeletal and cardiovascular manifestations and the highly suggestive family history. Surgical treatment for resection of bullae was undertaken.
The second patient, a 13-year-old boy, was admitted because of right chest pain. He had several episodes of spontaneous pneumothorax and had undergone thoractomy for left spontaneous pneumothorax. The chest film revealed 100% pneumothorax on the right side. Review of the physical signs revealed arachnodactyly, dolichostenomelia, kyphoscoliosis and high-arched palate. The lenses were short sighted. Aortography showed dilatation of aorta. The diagnosis of Marfan syn-drome established on the basis of characteristic skeletal and cardiovascular manifestations. At thoracotomy, several bullae arising from the apical segment of his right lung were removed by means of wedge resection. Microscopically, bullae of this case resembled the usual bullae.
Pulmonary disease occurred in approximately 10% of the cases of Marfan syndrome which were reviewed. These include pulmonary malformations, cystic disease, pneumothorax and bullae emphysema. Spontaneous pneumothorax with Marfan syndrome has been noted in the literature recently. The supposition remains that pneumothorax with Marfan syndrome may reflect a localized pulmonary abnormality related to the generalized connective tissue defect.
