Abstract
Neurofibromatosis type 1 is an autosomal dominant disease characterized by multiple dermatological disorders amongst others. Among the less frequent manifestations are vascular abnormalities. Here, we present a case of spontaneous massive hemothorax in a 39-year-old Caucasian woman with neurofibromatosis 1 and a thoracic meningocele with a lethal outcome despite extensive surgical intervention as well as intensive care measures. Spontaneous hemothorax is a rare, but potentially lethal complication of neurofibromatosis type 1, which necessitates quick and decisive intervention; endovascular embolization where possible, otherwise aggressive surgical intervention in unstable patients.Electronic supplementary materialThe online version of this article (doi:10.1186/s13019-014-0172-y) contains supplementary material, which is available to authorized users.
Highlights
Neurofibromatosis 1 (NF1) is an autosomal dominant disease characterized by café-au-lait macules, neurofibromas of any type, axillary and inguinal freckling and Lisch nodules in the iris
Intrathoracic meningoceles have been described in NF1 several times [4,5,6]
We hereby report a case of spontaneous hemothorax in a patient with neurofibromatosis 1 who went into cardiac arrest due to massive bleeding and died from uncontrollable hemorrhage
Summary
Neurofibromatosis 1 (NF1) is an autosomal dominant disease characterized by café-au-lait macules, neurofibromas of any type, axillary and inguinal freckling and Lisch nodules in the iris. We present a case of a lethal spontaneous hemothorax associated to an intrathoracic meningocele in a patient with NF 1. Case presentation A 39-year old Caucasian female with known NF1 presented herself in the emergency department of an outside hospital with acute symptoms of thoracic pain and dyspnea.
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