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Fatal right spontaneous haemothorax in Von Recklinghausen's disease

^a Department of Thoracic Surgery, Hospital Universitari de Girona "Dr. Josep Trueta", Ctra de França s/n, 17007 Girona, Spain
^b Department of Pathology, Hospital Universitari de Girona, Girona, Spain

^* Corresponding author. Tel.: +34-972-40294; fax: +34-972-40220
29082xbp{at}comb.es

Received June 18, 2002; received in revised form October 19, 2002; accepted October 23, 2002

	Abstract

Top Abstract 1. Introduction 2. Case report 3. Discussion References

 
Spontaneous massive haemothorax is uncommon and usually occurs as a result of pulmonary infarction, arteriovenous fistula, neoplasm, ruptured aortic aneurysm, rupture of pleural adhesions or pleural endometriosis. Massive haemothorax in Von Recklinghausen's disease occurs rarely but with potentially fatal results in spite of surgery. We present a case of a spontaneous massive exsanguinating haemothorax in a patient with neurofibromatosis type 1 caused by rupture of a branch of the right subclavian artery. Bleeding was probably due to neurofibromatous invasion of the arterial wall.

Key Words: Massive haemothorax; Von Recklinghausen's disease

	1. Introduction

Top Abstract 1. Introduction 2. Case report 3. Discussion References

 
Von Recklinghausen's disease or neurofibromatosis type 1 (NF 1) is an autosomal dominant disorder characterized by multiple skin tumours and abnormal cutaneous pigmentation [1,2]. Different associated complications have been described in this pathology such as central nervous system and osseous system involvement, benign and malignant schwannomas and other types of malignant tumours [1]. Vascular lesions in this entity are rare, but sometimes fatal [1,3]. Massive spontaneous haemothorax in patients with Von Recklinghausen's disease has been occasionally reported in the literature [1,2,5,6]. We describe a patient with NF 1 who died because of a massive spontaneous haemothorax following the rupture of a branch of the right subclavian artery.

	2. Case report

Top Abstract 1. Introduction 2. Case report 3. Discussion References

 
A 33-year-old white man with Von Recklinghausen's disease presented to the emergency service of another hospital complaining of a sudden right thoracic pain. Simultaneously he began to experience progressive dyspnea. Past medical history was significant for an intervened cerebral low-grade astrocytoma 14 years previously. Physical examination revealed a hypophonesis of the right haemithorax with signs of hypovolaemia (cutaneous pallor, tachycardia, etc.) and multiple cutaneous neurofibromas associated with café-au-lait spots and axillary freckling. There was no history of previous trauma. A frontal chest X-ray showed a complete right pleural effusion and midline shift of the mediastinal structures to the left. An intercostal drainage tube was inserted and approximately 1500 ml of blood was removed. He suffered progressive haemodynamic instability so he was then urgently transferred to our centre for surgical evaluation.

He was admitted with clinical signs of hypovolaemic shock and an active blood discharge from the thoracic drainage tube. An emergency thoracotomy was indicated to determine the source of the bleeding. Surgical exploration demonstrated about 6000 cc of blood in the right thoracic cavity. A mediastinal haematoma near the superior caval vein was appreciated with minimal pleural rupture. When opening the mediastinal pleura, an active haemorrhage from the retrocaval region near the origin of the subclavian vein was noted. The patient suffered a hypovolaemic cardiac failure and he died despite of intensive cardiopulmonary resuscitation.

The post-mortem examination revealed a right haemothorax of about 500 ml with a collapsed right lung. There was a mediastinal haematoma of about 6 cm in diameter in the right upper pole of the caval vein and a rupture of the first branch of the right subclavian artery.

Microscopic study demonstrated a dense spindle-cell proliferation involving the right subclavian artery (Fig. 1). The cellular proliferation was of neural type not showing nuclear anaplasia or mitoses. Medial degeneration and disruption of the elastic layers accompanied the neurofibromatous invasion within the arterial wall (Fig. 2). These changes were also observed in several adjacent small veins. Neurofibromas could not be seen at the bleeding point. The soft tissue of the neck external to the haematoma demonstrated small vessels surrounded by neurofibromatous and ganglioneuromatous tissue.

View larger version (153K): [in this window] [in a new window]   Fig. 1 Low-power view of the right subclavian artery adjacent to the bleeding area (H&E stain, x100).

View larger version (175K): [in this window] [in a new window]   Fig. 2 High-power view shows neurofibromatous infiltration in the arterial wall between muscular and elastic layers (H&E stain, x200).

A right adrenal pheochromocytoma of 4.5 cm in diameter and an appendicular carcinoid tumour (0.4 cm) were found.

	3. Discussion

Top Abstract 1. Introduction 2. Case report 3. Discussion References

 
The incidence of vascular lesion in NF 1 has been reported to be only 3.6% [1]. Arterial lesions associated with Von Recklinghausen's disease are classified into two categories in relation to the diameter of the vessels. Larger vessels such as the aorta, carotid, etc. are surrounded by neurofibromatous or ganglioneuromatous tissue whose proliferation weakens the media and injures the elastic tissue, leading to aneurysms formation or stenosis. On the other hand, a NF 1-associated arterial dysplasia involving smaller vessels and not related to neural malformation has been described [1].

Massive haemorrhages in the patients with Von Recklinghausen's disease is a rare but potentially lethal complication [2]. Bleeding in the abdominal cavity, retroperitoneum and in soft tissue have been reported, being caused by the rupture of friable vasculature as a result of either vascular invasion by neurofibromas or arterial dysplasia [4]. Also massive haemothorax due to erosion of the intercostal vessels by a schwannoma [5], or due to the formation of microaneurysms at the intercostal artery has been described [6].

Miura et al. [1] reported 12 cases of spontaneous haemothorax in patients with NF 1 in Japan. They occurred more frequently on the left side, with the intercostal artery and the subclavian artery being the most ruptured vessels. Only a case of affectation of the right subclavian artery was described. Pathological changes were observed in seven cases and a relationship between the vascular injury and the neurofibroma was proven in five of them. Neurofibromatous invasion of the vascular wall was noted in four cases and neurofibromatous proliferation surrounded an artery causing ischaemic changes in one case. Ten patients underwent surgery and half of them expired due to blood loss in spite of treatment.

In our case, bleeding was due to a rupture of the first branch of the right subclavian artery producing an important mediastinal haematoma and massive haemothorax. Microscopically the ruptured point could not be clearly appreciated because of the extensive haematoma. Histologic study of the neighbouring subclavian artery revealed involvement of the vascular wall by neurofibromas, so rupture is likely related to neurofibromatous invasion.

The prognosis is poor in cases when the loss of blood is massive and the patient falls into hypovolaemic shock. An immediate surgical intervention is recommended in those patients with Von Recklinghausen's disease who develop spontaneous haemothorax. This procedure may be life-saving even when the suitable access route is not easy to establish (lesion of intercostal artery or subclavian artery?). If the clinical situation permits it, the best option is to make a radiological exploration in order to find the source of the bleeding. The existence of a mediastinal haematoma indicates an injury of the subclavian vessels, and sternotomy should be recommended. In cases when haemothorax is not accompanied by mediastinal haematoma an intercostal vessel injury is expected, so patients should undergo thoracotomy.

doi:10.1016/S1569-9293(02)00092-0

	References

Top Abstract 1. Introduction 2. Case report 3. Discussion References

 

1. Miura H, Taira O, Uchida O, Usuda J, Hirai S, Kato H. Spontaneous haemothorax associated with Von Recklinghausen's disease: review of occurrence in Japan. Thorax. 1997;52(6):577–578[Abstract]
2. Larrieu AJ, Hashimoto SA, Allen P. Spontaneous massive haemothorax in Von Recklinghausen's disease. Thorax. 1982;37(2):151–152[Medline]
3. Leier CV, Dewan CJ, Anatasia LF. Fatal haemorrhage as a complication of neurofibromatosis. Vasc Surg. 1972;6:98–101[Medline]
4. Nopajaroonsri C, Lurie AA. Venous aneurysm, arterial dysplasia, and near-fatal haemorrhages in neurofibromatosis type 1. Hum Pathol. 1996;27(9):982–985[Medline]
5. Salyer WR, Salyer DC. The vascular lesion of neurofibromatosis. Angiology. 1974;25:510–519
6. Butchart EG, Grotte GH, Barnsky WC. Spontaneous rupture of an intercostal artery in a patient with neurofibromatosis and scoliosis. J Thorax Cardiovasc Surg. 1975;69:919[Abstract]

This Article Abstract Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Personal Folders Download to citation manager Permission Requests Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Baldó, X. Articles by Bernadó, L. Search for Related Content PubMed PubMed Citation Articles by Baldó, X. Articles by Bernadó, L. Related Collections Lung - other Pleura Great vessels