Skip to main content

A case of lethal spontaneous massive hemothorax in a patient with neurofibromatosis 1


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.

Peer Review reports


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. Additionally, numerous vascular manifestations have been reported [1]-[3]. Intrathoracic meningoceles have also been described in NF1 several times [4]-[6]. Spontaneous hemothorax is a rare but potentially lethal complication [7]-[9]. Here, 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. Her history was otherwise significant for an extensive thoracic myelomeningocele and status post-surgical correction of a thoracic scoliosis using a tibia bone graft 27 years earlier.

On physical examination at the outside hospital, she was awake, afebrile, blood pressure of 80/40 mmHg and a heart rate of 100 beats per minute. The initial haemoglobin was 12.5 g/dl, quickly deteriorating to 8.4 g/dl in the following hour. Chest x-ray (Figure 1) was performed 40 mins after admission and revealed an extensive mediastinal shift. Subsequent computer tomography (Figure 2) was performed 1h later at the outside hospital and revealed a massive hemothorax on the left side. The patient was intubated orotracheally because of hemorrhagic shock and imminent cardiopulmonary arrest and received seven packed red blood cell concentrates. A thoracic drainage was inserted prior to transfer. 4 h 10 min after admission to the outside hospital the patient was transferred to our institution and arrived there 1h later.

Figure 1
figure 1

Chest radiography showing extensive opacity in the left hemithorax. Note the massive mediastinal shift (arrows).

Figure 2
figure 2

Chest computer tomography (CT). Upper figure: without contrast enhancement. Lower figure: with contrast enhancement. The arrows show the intrathoracic meningocele and the arrowheads show the hemothorax.

On admission, she was highly catecholamine-dependent. We found one left-thoracic suction drainage installed using Monaldi technique with 50 ml of blood in the drainage bottle. During placement of venous and arterial lines she suffered a cardiocirculatory arrest. Resuscitation was immediately initiated and we proceeded with performing an emergency exploratory left antero-lateral thoracotomy in the intensive care unit. Thereupon 2 liters of blood exsanguinated spontaneously. Despite massive blood transfusions (16 packed red blood cells, 2 thrombocyte concentrates, and 4 fresh frozen plasmas) and intravenous fluid administration no sufficient circulation could be established. Due to massive bleeding and very difficult operative conditions it was not possible to perform either an exploration of the thorax or an open cardiac massage via the same approach, which forced us to take a second approach through a median sternotomy for cardiac massage. Upon exploration of the thoracic cavity through the antero-lateral approach a large tumor, dorsal on the left side next to the vertebral column with massive bleeding, was detected. Despite several sutures and massive transfusions the bleeding could not be stopped and no sufficient blood pressure could be established. 7 h 30 mins after her first admission to the outside hospital and three hours after arriving at our institution the patient succumbed to the bleeding.

On autopsy multiple neurofibromas and several café-au-lait spots were scattered over the entire body surface. In the area of the tibia bone graft in the upper thoracic spine a protrusion of the dura mater of 8 × 10 cm was found. This meningocele showed a 1.8 cm perforation, which was probably due to the surgical procedures. Unfortunately, the autopsy could not reveal a distinct source of bleeding, but with a high probability, given the proximity to the oozing point, the bleeding must have originated from an intercostal artery.


We hereby report a case of spontaneous hemothorax in a patient with neurofibromatosis 1 who went into cardiac arrest due to massive bleeding and finally died from uncontrollable hemorrhage. Despite immediate surgical intervention we were unable to locate the precise oozing point of the arterial bleeding due to the proximity to a large meningocele and the patient could not be resuscitated successfully.

So far, thoracic meningoceles have not been directly implicated in bleedings associated to NF1. The pathogenic relevance of the meningocele as the source of the bleeding, however, could not be supported by CT and autopsy. A deformity of the thorax and a mechanical stretching of an intercostal artery could have played a role [4]. However, the proximity of the oozing point to the large intrathoracic meningocele considerably complicated the operative procedure.

Since the case had an unfavorable outcome, one has to investigate whether the management was optimal. In NF1 surgical repair of bleeding vessels is complicated by arterial fragility due to intimal and medial dysplasia [10]. For this reason, endovascular embolization of arterial aneurysms is generally considered to be the treatment of choice in a stable hemodynamic situation as it is less invasive and more effective than surgical intervention [1],[9],[11],[12]. Video-assisted thoracoscopy (VATS) may be an alternative for evacuating a hematoma, especially after controlling the bleeding, e.g. by endovascular measures. During initial management with acute or even uncontrolled bleeding VATS seems to be suitable only in exceptional cases [13].

Since the patient in this case went directly into hemorrhagic shock and an unsatisfactory stabilization of the hemodynamic situation did not allow for an angiography, we considered an immediate thoracotomy as the only viable alternative. In line with this view, Miura et al. consider an emergent and aggressive surgical treatment to be indicated in patients in a hemodynamically unstable condition [14].

Collectively, it is conceivable that a faster transportation to our institution after a correct diagnosis of NF1-associated hemothorax and a timely embolization before the patient went into shock may have led to a favorable outcome. We therefore conclude that a quick diagnosis which facilitates early preparation of endovascular treatment is crucial in the management of spontaneous hemothorax in patients with NF1.


Written informed consent was obtained from the patient’s next of kin for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.



Computer tomography


Neurofibromatosis 1


  1. Kipfer B, Lardinois D, Triller J, Carrel T: Embolization of a ruptured intercostal artery aneurysm in type I neurofibromatosis. Eur J Cardiothorac Surg. 2001, 19: 721-723. 10.1016/S1010-7940(01)00644-3.

    Article  CAS  PubMed  Google Scholar 

  2. Oderich GS, Sullivan TM, Bower TC, Gloviczki P, Miller DV, Babovic-Vuksanovic D, Macedo TA, Stanson A: Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results. J Vasc Surg. 2007, 46: 475-484. 10.1016/j.jvs.2007.03.055.

    Article  PubMed  Google Scholar 

  3. Salyer WR, Salyer DC: The vascular lesions of neurofibromatosis. Angiology. 1974, 25: 510-519. 10.1177/000331977402500803.

    Article  CAS  PubMed  Google Scholar 

  4. Kaneda H, Saito T, Konobu T, Saito Y: Chest wall bleeding with giant intrathoracic meningocele in neurofibromatosis type 1. Interact Cardiovasc Thorac Surg. 2011, 12: 328-330. 10.1510/icvts.2010.252676.

    Article  PubMed  Google Scholar 

  5. Miles J, Pennybacker J, Sheldon P: Intrathoracic meningocele. Its development and association with neurofibromatosis. J Neurol Neurosurg Psychiatr. 1969, 32: 99-110. 10.1136/jnnp.32.2.99.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Rainov NG, Heidecke V, Burkert W: Thoracic and lumbar meningocele in neurofibromatosis type 1. Report of two cases and review of the literature. Neurosurg Rev. 1995, 18: 127-134. 10.1007/BF00417670.

    Article  CAS  PubMed  Google Scholar 

  7. Nopajaroonsri C, Lurie AA: Venous aneurysm, arterial dysplasia, and near-fatal hemorrhages in neurofibromatosis type 1. Hum Pathol. 1996, 27: 982-985. 10.1016/S0046-8177(96)90229-4.

    Article  CAS  PubMed  Google Scholar 

  8. Pezzetta E, Paroz A, Ris HB, Martinet O: Spontaneous hemothorax associated with von Recklinghausen's disease. Eur J Cardiothorac Surg. 2003, 23: 1062-1064. 10.1016/S1010-7940(03)00145-3.

    Article  PubMed  Google Scholar 

  9. Teitelbaum GP, Hurvitz RJ, Esrig BC: Hemothorax in type I neurofibromatosis. Ann Thorac Surg. 1998, 66: 569-571. 10.1016/S0003-4975(98)00513-X.

    Article  CAS  PubMed  Google Scholar 

  10. Greene JF, Fitzwater JE, Burgess J: Arterial lesions associated with neurofibromatosis. Am J Clin Pathol. 1974, 62: 481-487.

    Article  PubMed  Google Scholar 

  11. Arai K, Sanada J, Kurozumi A, Watanabe T, Matsui O: Spontaneous hemothorax in neurofibromatosis treated with percutaneous embolization. Cardiovasc Intervent Radiol. 2007, 30: 477-479. 10.1007/s00270-006-0056-1.

    Article  PubMed  Google Scholar 

  12. Sandhu C, Sabharwal T: Spontaneous hemothorax in patients with neurofibromatosis treated with percutaneous embolization. Cardiovasc Intervent Radiol. 2008, 31: 1260-1261. 10.1007/s00270-007-9274-4.

    Article  CAS  PubMed  Google Scholar 

  13. Mydin Muhammad Izanee M, Sharma A, Zia Z, Hawari M, Jadoon M, Majewski A: A novel approach in managing right-sided haemothorax in neurofibromatosis type 1.Asian Cardiovasc Thorac Ann 2014, doi:10.1177/0218492314522636.,

  14. Miura T, Kawano Y, Chujo M, Miyawaki M, Mori H, Kawahara K: Spontaneous hemothorax in patients with von Recklinghausen's disease. Jpn J Thorac Cardiovasc Surg. 2005, 53: 649-652. 10.1007/BF02665078.

    Article  PubMed  Google Scholar 

Download references


We thank Dr. Jörg Stammkötter for helping in obtaining the patient’s medical history.

Author information

Authors and Affiliations


Corresponding author

Correspondence to Wolfram T Knoefel.

Additional information

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

LZF, TS, BK, DK-M designed the research; LZF, TS and SAT collected the data; LZF drafted the manuscript; WTK, AL and TS helped to draft the manuscript. All authors revised the manuscript. All authors read and approved the final manuscript.

Authors’ original submitted files for images

Below are the links to the authors’ original submitted files for images.

Authors’ original file for figure 1

Authors’ original file for figure 2

Rights and permissions

Open Access  This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made.

The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.

To view a copy of this licence, visit

The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated in a credit line to the data.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Zacarias Föhrding, L., Sellmann, T., Angenendt, S. et al. A case of lethal spontaneous massive hemothorax in a patient with neurofibromatosis 1. J Cardiothorac Surg 9, 172 (2014).

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: