Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Book Review
Brief Report
Case Report
Case Series
Commentary
Editorial
Erratum
Guest Editorial
Images
Images in Neurology
Images in Neuroscience
Images in Neurosciences
Letter to Editor
Letter to the Editor
Letters to Editor
Letters to the Editor
Media and News
None
Notice of Retraction
Obituary
Original Article
Point of View
Position Paper
Review Article
Short Communication
Technical Note
Techniques in Neurosurgery
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Book Review
Brief Report
Case Report
Case Series
Commentary
Editorial
Erratum
Guest Editorial
Images
Images in Neurology
Images in Neuroscience
Images in Neurosciences
Letter to Editor
Letter to the Editor
Letters to Editor
Letters to the Editor
Media and News
None
Notice of Retraction
Obituary
Original Article
Point of View
Position Paper
Review Article
Short Communication
Technical Note
Techniques in Neurosurgery
View/Download PDF

Translate this page into:

Commentary
5 (
3
); 272-272

Commentary

Address for correspondence: Dr. Keerati Hongsakul, Department of Radiology, Faculty of Medicine, Vascular and Interventional Unit, Prince of Songkla University, 15 Kanchanavanit Road, Hat Yai, Songkhla-90110, Thailand. E-mail: keeratihongsakul@yahoo.com

Read COMMENTARY-ARTICLE associated with this -

Licence

This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Disclaimer:
This article was originally published by Medknow Publications & Media Pvt Ltd and was migrated to Scientific Scholar after the change of Publisher; therefore Scientific Scholar has no control over the quality or content of this article.

Neurofibromatosis type 1 (NF1), or Von Recklinghausen disease, is a group of heterogeneous diseases that present with multiorgan involvement. This disease is an autosomal dominant genetic disorder that includes an abnormality of the long arm of chromosome 17. The prevalence of this disease is about 1 in 3,000 births.[1] Diagnosis of this disease is according to the following criteria: Café-au-lait spots, plexiform neurofibroma, other forms of neurofibroma, iris hamatomas, fleckling, optic glioma, abnormality of bone lesions, and presents in the first degree relation.[2]

The tumor-related NF1 includes neurofibroma, glioma, malignant peripheral nerve sheath tumor, non-lymphomatic leukemia, and pheochromocytoma.[3] However, the most common tumor-related disease is neurofibroma. Vascular involvement, including occlusion, stenosis, aneurysm, or ectasia, is rare. The cause of vasculopathy associated with NF1 is described as: (1) Direct vascular invasion from the adjacent neoplasms, and (2) vascular dysplasia with the thickening and concomitantly reduced strength of the arterial wall causing aneurismal formation.[45]

Massive hemothorax is a fatal complication of NF1. The cause is usually a spontaneous rupture of arterial involvement due to wall fragility. The most common arterial involvements are subclavian and intercostal arteries. The other arterial involvements include the thyrocervical trunk, internal thoracic artery, phrenic artery, and vertebral artery. Abdominal aorta involvement was also reported.[6] The source of arterial bleeding could be determined from several previous articles due to the spontaneous rupture of the pathologic artery.[2456] However, some reports could not identify the source of bleeding. In this case report, the patient had a spontaneous massive right hemothorax, but the source of bleeding could not be found by either CT scan or thoracoscopy. In my opinion, the cause of bleeding in this case was possibly due to a ruptured neurofibroma or a direct invasion of the artery at the apical lung, evidenced by a sentinel clot adjacent to the tumor.[7] Treatment of spontaneous massive hemothorax in NF1 depends on the etiology of the bleeding. Endovascular treatment with embolization is one choice in the case of an arterial rupture related to NF1.[2] In contrast, cases of a ruptured tumor should be treated by surgery.

In summary, spontaneous massive hemothorax in NF1 is not common, but becomes a life-threatening condition because of massive blood loss and respiratory discomfort. Early management should be performed to decrease morbidity and mortality.

References

  1. , , , , , , . Cardiovascular disease in neurofibromatosis 1: Report of the NF1 cardiovascular task force. Genet Med. 2002;4:105-11.
    [Google Scholar]
  2. , , , , , , . Spontaneous massive hemothorax in a patient with neurofibromatosis type 1 with successful transarterial embolization. Korean J Radiol. 2013;14:86-90.
    [Google Scholar]
  3. , . Malignancy in neurofibromatosis type 1. Oncologist. 2000;5:477-85.
    [Google Scholar]
  4. , , , , , . Spontaneous aortic dissection and rupture in a patient with neurofibromatosis. J Vasc Surg. 2001;34:364-6.
    [Google Scholar]
  5. , , , , , , . Spontaneous haemothorax associated with von Recklinghausen's disease: review of occurrence in Japan. Thorax. 1997;52:577-8.
    [Google Scholar]
  6. , , , , , , . Spontaneous aortic rupture in a patient with neurofibromatosis type 1. J Korean Surg Soc. 2012;82:261-5.
    [Google Scholar]
  7. , , , , . Spontaneous hemothorax associated with neurofibromatosis type-I and review of literature. J Neurosci Rural Pract. 2014;5:269-71.
    [Google Scholar]

    Fulltext Views
    38

    PDF downloads
    0
    View/Download PDF
    Download Citations
    BibTeX
    RIS
    Show Sections