Hémothorax spontané: complication rare de la neurofibromatose type 1

Fdil, S.; Bouchikhi, Saad; Bourkadi, J.E.

doi:10.11604/pamj.2017.28.85.13820

Cited by 3 publications

(2 citation statements)

References 7 publications

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“…Thoracic complications of NF1 are multiple and also include the development of airway plexiform neurofibromas, plexiform neurofibromas in the posterior mediastinum, spinal dumb-bell neurofibromas, intercostal neurofibromas, intrathoracic meningoceles, increased risk of pneumothorax or haemothorax [74,75] and skeletal abnormalities [76]. An increased risk of cancer is known in NF1 and cases of lung cancer have also been described in NF1 although they seem to be rare [77,78].…”

Section: Other Thoracic Complicationsmentioning

confidence: 99%

Pulmonary hypertension associated with neurofibromatosis type 1

et al. 2018

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Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a frequent autosomal dominant genetic disorder with a prevalence of 1 in 3000. Pulmonary hypertension (PH) associated with NF1 (PH-NF1) is a rare but severe complication of NF1 and is classified as Group 5 PH, defined as "PH with unclear and/or multifactorial mechanisms". A literature review in PubMed on the association between NF1 and PH identified 18 articles describing 31 cases. PH-NF1 was characterised by a female predominance, an advanced age at diagnosis, an association with parenchymal lung disease in two out of three cases and poor long-term prognosis. NF1 is generally associated with interstitial lung disease but some cases of severe PH without parenchymal lung disease suggest that there could be a specific pulmonary vascular disease. There is no data available on the efficacy of specific pulmonary arterial hypertension treatment in PH-NF1. Therefore, these patients should be evaluated in expert PH centres and referred for lung transplantation at an early stage. As these patients have an increased risk of malignancy, careful assessment of the post-transplant malignancy risk prior to listing for transplantation is necessary. Clinical trials are needed to evaluate promising treatments targeting the RAS-downstream signalling pathways.

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Section: Other Thoracic Complicationsmentioning

confidence: 99%

Pulmonary hypertension associated with neurofibromatosis type 1

et al. 2018

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“…Fdil et al made a resuscitation and thoracic drainage. Nevertheless, they had to perform a thoracotomy due to a subsequent pleural infection [8]. In the present case, we only performed thoracic drainage since the patient was hemodynamically stable and there was neither vascular abnormality nor any other source of bleeding on imaging.…”

Section: Discussionmentioning

confidence: 99%

Spontaneous Hemothorax in a Patient with von Recklinghausen’s Disease: A Case Report and Review of the Literature

et al. 2019

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Patient: Male, 45 Final Diagnosis: Spontaneous hemorhorax Symptoms: Cough • worned dyspnea • yellow expectoration Medication: — Clinical Procedure: Chest tube application Specialty: Surgery Objective: Rare co-existance of disease or pathology Background: Von Recklinghausen’s disease, also known as Type 1 neurofibromatosis (NF1), is a genetic disorder characterized by skin tumors, neurofibromas of multiple organs and vascular abnormalities. Spontaneous thoracic hemorrhage is a rare but potentially fatal consequence of this disorder. After a review of the literature over the last 10 years and on the basis of a case study, the aim of this study was to report the challenges of management of this pathology. Case Report: We report a rare case of a 45-years-old male with a medical history of neurofibromatosis who complained of a 3-day history of progressive dyspnea. At his admission to the Emergency Department, the patient was hemodynamically stable. A chest computed tomography (CT) scan showed a large left hemothorax with mediastinal shift to the right without active bleeding. A chest tube was introduced, and conservative treatment was followed. Another CT scan performed 2 days later revealed a middle lobar pulmonary embolism on the opposite side. A full treatment of anticoagulation was administered, and the patient was released after 8 days of hospitalization. Three weeks later, a new chest CT scan indicated the absence of vascular aneurysm or source for hemothorax. Conclusions: Our systematic literature review found 15 articles which were described as early as 2005. To our knowledge, endovascular treatment produces the best immediate successful result (100%) and may be used in adjunction with video-assisted thorax surgery (VATS) or thoracic drainage to optimize outcomes. In the present case, conservative treatment showed a good result despite anticoagulation for pulmonary embolism. The endovascular approach seems to be the most promising, but treatment needs to be tailored to each individual patient.

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