Delayed diagnosis of neurofibromatosis type I with an index presentation of haemothorax

Abstract

Abstract Neurofibromatosis type I (NF1) is an autosomal dominant condition that typically presents with cutaneous features, including neurofibromas and Lisch nodules. At the time of writing, vasculopathies are not part of the updated diagnostic criteria. We present the case of a 36-year-old woman with sudden-onset chest pain caused by a large haemothorax. It was discovered that this was likely secondary to a pseudoaneurysm in the seventh intercostal artery alongside mid-aortic syndrome with an aortic diameter of 3 mm. This patient had not previously been diagnosed and subsequently suffered a life-threatening complication. This case highlights delayed recognition and diagnosis of NF1 which ultimately resulted in life-threatening sequelae. We suggest noting higher index of suspicion of NF1 following identification of vasculopathy, and to consider earlier testing in atypical presentations.