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A 29-year-old woman developed increasing right (Rt.) shoulder/chest pain and dyspnoea 16 hours after delivering a healthy baby. Neurofibromatosis type 1 (NF-1) had been diagnosed in childhood by cafe-au-lait macules, neurofibromas and a positive family history.
She appeared acutely ill with tachycardia (120/min), tachyponea (20/min) and hypoxaemia (88% oxygen saturation). Breath sounds were barely audible over the Rt. hemithorax which was dull on percussion. ECG showed sinus tachycardia. Chest X-ray revealed large Rt. pleural effusion (figure 1). Laboratory tests were non-contributory except for serum Na 133 mEq/L due to the syndrome of inappropriate antidiuretic hormone secretion. CT angiography revealed massive Rt. haemothorax and demonstrated active bleeding from a pseudoaneurysm of the proximal Rt. internal mammary artery (figure 2). Thoracostomy drained 400 mL blood, haemoglobin dropping from 13.4 to 8.0 g/L. She stabilised and made full recovery after embolisation of the affected artery.
When marked pain and dyspnoea develop acutely post partum, pulmonary thromboembolism is the immediate suspect, but postpartum cardiomyopathy and coronary artery dissection must also be considered. Here, examination and chest X-ray findings suggested otherwise, and taking into account her congenital susceptibility (NF-1), the possibility of spontaneous haemothorax was raised.
NF-1 (von Recklinghausen's disease) is an autosomal dominant disorder caused by mutations in the NF1-gene located at chromosome 17, with an incidence of ~1:3000 births.1
Its cutaneous manifestations are well known as are the varied associated tumours. However, vascular involvement in NF-1 is often asymptomatic and poorly recognised. Nevertheless, large vessel changes (‘vasculopathy’) including stenoses, aneurysms, pseudoaneurysms, arteriovenous malformations and rupture of myriad arteries have been reported in NF-1.2
In the chest, life-threatening spontaneous haemothorax may be the presenting manifestation of subclavian, intercostal or internal mammary artery aneurysms rupture as in our patient, and in very few previous reports. Pregnancy may exacerbate the vascular pathology associated with NF-1, and haemodynamic changes during labour3 including increased heart rate and increased systolic blood pressure further contribute to the risk of postpartum arterial rupture and haemothorax.
In conclusion, our patient's emergency presentation and timely diagnosis are powerful reminders of the value of obtaining and thoroughly considering the patient's pretest probability or susceptibility. A quick look at PubMed (neurofibromatosis AND haemothorax) yielded at once the likely cause, and facilitated diagnostic decisions (immediate CT angiography) and intervention (embolisation of the arterial pseudoaneurysm).
Contributors ID: diagnosed the patient and all authors treated the patient. YG: analysed the imaging studies. AS: prepared and submitted the manuscript which was seen and approved by ID and YG.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Obtained.
Provenance and peer review Not commissioned; internally peer reviewed.