European Journal of Cardio-thoracic Surgery 23 (2003) 10621064

www.elsevier.com/locate/ejcts

Case report

Spontaneous hemothorax associated with von Recklinghausens 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

Abstract
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
Recklinghausens disease.
q 2003 Elsevier Science B.V. All rights reserved.
Keywords: Von Recklinghausen; Neurofibromatosis; Hemothorax

1. Introduction Vascular involvement has been well described in the

Neurofibromatosis is an inherited autosomal dominant
disorder. Several subtypes of the disease have been
described of which type I, also known as von Reckling-
hausen 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 cafe 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, neu-
romas, neurofibrosarcomas, and pheocromocytomas have
been described [2 5].
* Corresponding author. Tel.: 41-21-314-2423; fax: 41-21-314-2376.
E-mail address: olivier.martinet@chuv.hospvd.ch (O. Martinet).
1010-7940/03/$ - see front matter q 2003 Elsevier Science B.V. All rights reserved.
doi:10.1016/S1010-7940(03)00145-3
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 endo-
vascular embolization has also been reported [3,5]. We
present a rare case of spontaneous hemothorax treated
conservatively in a patient with von Recklinghausens
disease.
 E. Pezzetta et al. / European Journal of Cardio-thoracic Surgery 23 (2003) 10621064
2. Case presentation
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 hypo-
ventilation 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,
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.
1063
Fig. 2. Thoracic aortography showing distortion of the thoracic aorta and
tortuous intercostal arteries without signs of active bleeding.
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.
3. Discussion
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-pulmon-
ary pathologies (bullous emphysema, necrotizing infec-
tions, 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 conserva-
tively: (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
1064 E. Pezzetta et al. / European Journal of Cardio-thoracic Surgery 23 (2003) 10621064
in patients with neurofibromatosis and spontaneous hemo-
thorax 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 contra-
indication 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 iden-
tifying 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].
References
[1] Riccardi V. Neurofibromatosis: past, present and future. N Engl J Med
1991;324:12835.
[2] Chew DKW. Spontaneous aortic dissection and rupture in a patient
with neurofibromatosis. J Vasc Surg 2001;34:364 6.
[3] Kipfer B, Lardinois D, Triller J, Carrel T. Embolization of a ruptured
intercostal artery aneurysm in type I neurofibromatosis. Eur J
Cardiothorac Surg 2001;19:7213.
[4] Miura H, Taira O, Uchida O, Usuda J, Hirai S, Kato H. Spontaneous
haemothorax associated with von Recklinghausens disease: review of
occurrence in Japan. Thorax 1997;52:577 8.
[5] Teitelbaum GP, Hurvitz RJ, Esrig BC. Hemothorax in type I
neurofibromatosis. Ann Thorac Surg 1998;66:569 71.
[6] Huppmann J, Gahton V, Bowers V, Mills J. Neurofibromatosis and
arterial aneurysms. Am Surg 1996;62:311 4.