Massive spontaneous hemothorax, giant intrathoracic meningocele, and kyphoscoliosis in neurofibromatosis type 1 (original) (raw)
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A case of lethal spontaneous massive hemothorax in a patient with neurofibromatosis 1
Journal of cardiothoracic surgery, 2014
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.
Monaldi Archives for Chest Disease
Neurofibromatosis type 1 (NF1), also known as Von Recklinghausen’s disease is an autosomal dominant genetic disorder. It is the most common of phacomatoses. Pulmonary complications have been rarely described in the literature. It is generally a benign disease, but has the potential for rare and fatal complications, such as spontaneous hemothorax. We reported two cases of patients with a history of von Recklinghausen’s disease. Both of them suffered sudden chest pain. Chest-X ray revealed a hemi-thoracic opacity. Enhanced chest computed tomography showed massive hemothorax, but no evidence of tumors or an obvious bleeding point in the thorax. After we had ensured a stable hemodynamic condition, we performed video-assisted thoracic surgery to remove the hematoma. No evidence of bleeding was noticed in the first patient whereas an active bleeding was observed in the second patient. We could not determine which vessel was responsible of the hemorrhage. Electrocoagulation and clot remova...
Neurosurgical Review, 1995
We report two cases of ventrolateral thoracic and lumbar meningoceles associated with neurofibromatosis type 1, and present a review of the literature. Thoracic and lumbar meningoceles are rare lesions which are associated with neurofibromatosis in 60% to 85% of cases. Large meningoceles may cause pain, neurological signs, or respirtory complaints when located intrathora-ciealLly. Surgery is indicated in such cases, as well as when small meningoceles enlarge with time. The etiology of meningoceles in neurofibromatosis remains controversial. The authors postulate that ventrolateral lesions of the thoracic and lumbar spine are secondary to congenital mesodermal dysplasia and hypoplastic bone changes. MRI is the diagnostic method of choice, since it most adequately visualizes the pathological anatomy of the spinal cord, meninges, and adjacent structures in every sectional plane. CT scans are particularly useful in assessing the spinal bony changes.
Spontaneous hemothorax: A rare lethal pulmonary complication of neurofibromatosis type 1
Indian Journal of Case Reports, 2021
Neurofibromatosis 1 (NF1), also called von Recklinghausen’s disease, is an autosomal dominant disease characterized by multiple non-cancerous tumors of nerves and skin, and areas of abnormal pigmentation. Vasculopathy and spontaneous hemothorax are rare complications, but potentially lethal, which necessitates quick and decisive intervention to save the life of the patient. Here, we present a case of spontaneous massive haemothorax leading to hemorrhagic shock in a 66-year-old woman with neurofibromatosis type-1. She was investigated and managed successfully.
Spinal Manifestations of Neurofibromatosis: An Update
Negah Institute for Social Research & Scientific Communication, 2020
Background and Aim: Neurofibromatosis-1 (NF1) is a common genetic condition in children. It is becoming increasingly recognized that in neurofibromatosis, there might be anomalous development of bone with or without any local anomaly of neuroectodermal basis. This review was conducted to highlight the different features of spinal disorders in this congenital disease. Methods and Materials/Patients: Different search engines were used in this research. After going through the results and discarding the repeated ones, 2 reviewers began to inspect the studies independent of one another. In case of any disagreements between the reviewers over the inclusion of certain research material into the study, the final decision was made by the senior author. In the end, accepted research materials were used as needed in categorizing different types of spinal injuries. Results: Skeletal defects are among the most effective complications on the quality of life of patients. Bone deformities, osteoporosis, osteopenia, reduction of bone mass density, and spinal osteopathy such as scoliosis among such defects. Although the relative prevalence of spinal defects in neurofibromatosis type 1 is not clear, scoliosis can be considered the most common type of spinal deformity in this illness to the point it is present in 10 to 71% of cases. Thus, spine surgeons may face numerous common challenging conditions in NF1 patients like scoliosis, spondylolisthesis, and dural ectasia. Conclusion: As NF1 distresses several organ systems, radiologic spine screening is important in patients with NF1 and patients are likely to profit most from a multidisciplinary treatment policy.
Case Report: A Large Intrathoracic Mass in A Patient With Neurofibromatosis Type 1
IRJNS Journal, 2021
Background and Importance: Dural ectasia is circumferential extension or dilatation of the dural sac, it is commonly associated with Neurofibromatosis type 1 (NF1). Because NF1 is associated with a high likelihood of tumor formation, it is critical to distinguish it from other posterior mediastinal cancers such as neurofibroma, neuroblastoma, and ganglioneuroma. Scoliosis is the most frequently observed feature in NF1 patients with spinal deformities. Moreover, there are several distinctive radiographic features, including dural ectasia, defective pedicles, and spondylolisthesis, which are relatively less common in these patients. Surgery may be performed for stabilization of the spine. Case Presentation: The present study reports on a 62-year-old female with neurofibromatosis type 1 who was referred for an unusual chest X-ray and chest Computed Tomography (CT) revealing a thoracic mass while she was hospitalized and under observation for dyspnea. The chest X-ray film showed homogenous opacity with a well-defined margin in the right apex. The chest CT showed an enlarged intervertebral foramen and defected vertebral arch around the mass and scoliosis. Although the pre-operative diagnosis was dumbbell type neurinoma, the tumor was found to be a protrusion of dura mater with spinal fluid out of the spinal canal. Part of the wall was excised, the residual opening was repaired, and surgical stabilization was performed. Conclusion: Retrospectively, magnetic resonance imaging showed the characteristics of thoracic dural ectasia and anterior meningocele, which, in an asymptomatic case, require regular radiographic follow-ups. Surgical intervention is an alternative for patients with spinal deformities or symptomatic patients due to the adverse effects of spinal cord compression and mediastinal structures.