Eur J Cardiothorac Surg 2003;23:1062-1064
© 2003 Elsevier Science NL
Spontaneous hemothorax associated with von Recklinghausen's disease
Edgardo Pezzetta,
Alexandre Paroz,
Hans-Beat Ris,
Olivier Martinet*
Department of Surgery, Service de Chirurgie, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne-CHUV, Switzerland
Received 21 October 2002;
received in revised form 25 February 2003;
accepted 3 March 2003.
* Corresponding author. Tel.: +41-21-314-2423; fax: +41-21-314-2376
e-mail: olivier.martinet{at}chuv.hospvd.ch
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Abstract
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Spontaneous hemothorax is a rare and life threatening complication of neurofibromatosis. Two types of vascular involvement have been described: (a) stenotic or aneurysmal alterations in large vessels such as the aorta and its branches; and (b) dysplastic features in smaller vessels. Thoracotomy and surgical ligation of the bleeding vessels is primarily indicated in the presence of active bleeding with associated hemodynamic compromise. A more conservative approach with endovascular embolization or non-operative management have also been reported in case of hemodynamic stability. We present a rare case of spontaneous hemothorax treated conservatively in a patient with von Recklinghausen's disease.
Key Words: Von Recklinghausen • Neurofibromatosis • Hemothorax
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1. Introduction
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Neurofibromatosis is an inherited autosomal dominant disorder. Several subtypes of the disease have been described of which type I, also known as von Recklinghausen disease, is the most common with a prevalence of 1/3000 births [1].
The genetic modifications have been characterized and a neurofibromatosis gene has been identified on the long arm of chromosome 17 [1]. Various alterations such as deletions, translocations, mutations and insertions have been described [1].
Clinically, von Recklinghausen disease is mainly characterized by cutaneous lesions such as café au lait spots and neurofibromas, and by typical hamartomatous modifications of the iris known as Lisch nodules [1–4]. Skeletal abnormalities such as tibial pseudoarthrosis, kyphoscoliosis, syringomyelia, and macrocephaly may also be found [2–5]. Various types of associated neoplastic lesions such as benign and malignant schwannomas, meningiomas, gliomas, glioblastomas, astrocytomas, neuromas, neurofibrosarcomas, and pheocromocytomas have been described [2–5].
Vascular involvement has been well described in the setting of neurofibromatosis [2,4]. With an incidence of 3.6%, this aspect of the disease is rarely encountered and therefore often unrecognized in the clinical practice [3,5].
Two distinct pathological conditions have been described: (a) stenotic or aneurysmal alterations in large vessels, such as the aorta and its branches; and (b) dysplastic features in smaller vessels [2–5]. Five different histologic types are currently known: (a) the pure intimal form; (b) the intimal-aneurysmal form; (c) the periarteriolar nodular form; (d) the advanced intimal form; and (e) the epithelioid form (4). Among intrathoracic vessels, intercostal and subclavian arteries are most commonly involved [4,5]. In case of vessel rupture, hemothorax is a possible and life threatening complication. Few cases of spontaneous hemothorax have been published in the literature [3–5]. Its treatment is controversial and depends primarily on the hemodynamic status of the patient. Surgical ligation of the bleeding vessels through thoracotomy is primarily indicated in case of active bleeding with associated hemodynamic compromise [4]. A non-operative approach with endovascular embolization has also been reported [3,5]. We present a rare case of spontaneous hemothorax treated conservatively in a patient with von Recklinghausen's disease.
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2. Case presentation
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A 29-year-old female with known von Recklinghausen neurofibromatosis was admitted because of acute onset left sided chest pain with dyspnea. The physical examination disclosed tachycardia, normal blood pressure, and hypoventilation of the left lung field. The hemoglobin level was 92 g/l. Chest X-ray demonstrated major thoracic deformity from a severe kyphoscoliosis and massive left pleural effusion (Fig. 1a)
. These findings were confirmed by a CT scan which failed to show any source of bleeding (Fig. 1b). A left chest tube was inserted after endotracheal intubation, permitting drainage of 1000 ml of blood from the left pleural cavity. Because of stable hemodynamic conditions a non-operative approach was chosen. Thoracic aortography was performed showing distortion of the thoracic aorta and intercostal arteries without signs of active bleeding (Fig. 2)
. The hemothorax did not relapse. Recovery was uneventful and the patient was discharged after 10 days in good conditions. During a follow up of 18 months, the patient did well with no evidence of spontaneous re-bleeding.
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Fig. 1. (a) Chest X-ray depicting major thoracic deformity from a severe kyphoscoliosis and massive left pleural effusion. (b) Chest CT scan revealing major thoracic deformity from a severe kyphoscoliosis and massive left pleural effusion.
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Fig. 2. Thoracic aortography showing distortion of the thoracic aorta and tortuous intercostal arteries without signs of active bleeding.
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3. Discussion
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Spontaneous hemothorax is a rare and life threatening complication of neurofibromatosis. Several pathogenetic mechanisms have been advocated for the vasculopathy associated with the disease: (a) direct vascular invasion from adjacent tumors such as schwannoma, neurofibroma or neurofibrosarcoma [2]; and (b) vascular dysplasia with thickening and consecutive reduced strength of the vessel wall and aneurysm formation [2–6]. Other non-vascular causes of spontaneous hemothorax include pleuro-pulmonary pathologies (bullous emphysema, necrotizing infections, pulmonary embolism, endometriosis, and neoplasms), blood dyscrasia, and abdominal pathologic conditions (pancreatic pseudocyst, and hemoperitoneum).
Only 20 cases of spontaneous hemothorax associated with neurofibromatosis have been reported in the literature [3–5]. Surgery with exploratory thoracotomy was the treatment option in 14 cases, with five postoperative deaths being reported. Three other patients were treated conservatively: (a) one with percutaneous thoracic drainage died because of re-bleeding; and (b) two with endovascular embolization followed by chest drainage and thoracoscopic decortication of the pleural cavity had an uneventful recovery. Finally, three cases of sudden death were reported in patients with neurofibromatosis and spontaneous hemothorax was diagnosed at autopsy. The case presented here is the first describing a successful non-operative management; we decided for this treatment option because of stable hemodynamic conditions and the absence of active bleeding on angiography. In addition, the patient presented with severe kyphoscoliosis in association with respiratory insufficiency which was considered to be a relative contraindication to thoracotomy and even thoracoscopy in order to avoid prolonged post-operative intubation. The etiology of the spontaneous hemothorax in our patient is debatable and encompasses all the above mentioned causes beside a vasculopathy. Prompt operative management with surgical exploration and hemostasis is indicated in case of hemorragic shock [4]. High morbidity and mortality rates are expected after thoracotomy [4]. A more conservative approach may be favored in case of stable hemodynamic conditions. In these patients, angiography can help identifying the source of bleeding. Endovascular treatment, especially embolization, may be a valuable alternative because of marked fragility of the vascular wall associated with the disease [3,5].
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References
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- Riccardi V. Neurofibromatosis: past, present and future. N Engl J Med 1991;324:1283-1285.[Medline]
- Chew D.K.W. Spontaneous aortic dissection and rupture in a patient with neurofibromatosis. J Vasc Surg 2001;34:364-366.[CrossRef][Medline]
- 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.[Abstract/Free Full Text]
- 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;52:577-578.[Abstract]
- Teitelbaum G.P., Hurvitz R.J., Esrig B.C. Hemothorax in type I neurofibromatosis. Ann Thorac Surg 1998;66:569-571.[Abstract/Free Full Text]
- Huppmann J., Gahton V., Bowers V., Mills J. Neurofibromatosis and arterial aneurysms. Am Surg 1996;62:311-314.[Medline]
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Abstract
1. Introduction
