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Thursday, May 21, 2015

A 25 Year Old Man Presents With 3 Day History Of Chest Pain And Increasing Breathlessness.

A 25-year-old male presented to the Accident and Emergency Department with a three-day history of
pleuritic, lright-sided chest pain and increasing breathlessness. The symptoms started suddenly while he was playing football. He denied any chest trauma. Until then he had been fit and well, and there was no past medical history of note. His father died suddenly at the age of 32 years.
On examination he was thin and tall and distressed with pain. There was no pallor or cyanosis. He had a wide arm span. The heart rate was 100 beats/min and blood pressure 150/80 mmHg. The respiratory rate was 32/min. The trachea was deviated to the left. Percussion appeared to be reduced on the left side and was loud on the right side. The right lung base was dull to percussion. On auscultation of the lung fields breath sounds were absent on the right side and normal on the left side. Auscultation of the precordium demonstrated
quiet heart sounds and a soft mid-systolic murmur. The femoral pulses were easily palpable. The left calf was bruised and slightly tender. He attributed this to an injury sustained during the football match. The ECG revealed normal sinus rhythm.

1. Which test would you perform to reach a diagnosis?
Answer: Chest X ray.

The chest X ray is shown below:
The X ray Shows a large pneumothorax on the right side with a collapsed lung (arrows).


2. What is the cause of his respiratory symptoms?
Answer: The pnemothorax that is diagnosed on the x ray.
Pleuritic chest pain and increasing breathlessness occur in pleurisy with or without pleural effusion, pneumonia, pulmonary embolism and lung malignancy. The physical signs are suggestive of a large
right pneumothorax.

3. What are the causes of pneumothorax?
Answer: Causes of pneumothorax include:

  • asthma,
  • emphysema,
  • stab wound to the lung or following a fractured rib,
  • fibrotic lung disease, 
  • suppurative lung disease (rupture of a lung abscess into a bronchus, staphylococcal pneumonia), 
  • pneumoconiosis, 
  • neurofibromatosis,
  • tuberose sclerosis, 
  • Marfan’s syndrome, 
  • Ehlers–Danlos syndrome and 
  • lymphangioleiomyomatosis. 

Most cases are idiopathic and occur in tall, thin men. A rare form, usually left-sided, occurs in women during menstruation (catamenial pneumothorax). It is possibly due to pulmonary endometriosis.

4. What is the underlying cause in the case mentioned above?
Answer: The underlying diagnosis and the cause of the pnemothorax in this case is Marfan’s syndrome. This is suggested by his tall height, cardiac mumur consistent with mitral valve prolapse and a possible family history of the condition, i.e. his father died prematurely. The syndrome is caused by a mutation in the gene encoding the connective tissue protein fibrillin on chromosome 15. The condition is inherited as an autosomal dominant trait. Affected individuals are tall, have a wide  rm span, arachnodactyly and skeletal deformities which include kyphoscoliosis, high arched palate, and pectus excavatum.
The joints are hyperextensile. Other associations include lens dislocation and retinal detachment. Mitral valve prolapse and aortic dilatation are recognised cardiac manifestations. Aortic dissection or rupture are the commonest cause of death. Patients with Marfan’s syndrome have a higher incidence of pneumothorax than the general population.

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