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[Neurofibromatosis as a cause of breathlessness].
- Source :
-
Revue des maladies respiratoires [Rev Mal Respir] 2018 Mar; Vol. 35 (3), pp. 338-341. Date of Electronic Publication: 2018 Mar 27. - Publication Year :
- 2018
-
Abstract
- Introduction: Type 1 neurofibromatosis, also called "Recklinghausen's disease" is among the most frequent autosomal dominant genetic disorders, with an incidence of 1:3500 births. It mainly affects the skin and peripheral nervous system. However, in its less frequent manifestations, are tumors such as meningocele and skeletal dysplasias leading to severe clinical presentation.<br />Case Report: We report the case of a 55-year-old patient with type 1 neurofibromatosis and dyspnea due to a large left thoracic meningocele combined with a significant kyphoscoliosis, causing a severe restrictive ventilatory defect, complicated by chronic respiratory failure and pulmonary hypertension. Symptomatic treatment with non-invasive ventilation permitted an improvement of the clinical situation.<br />Conclusions: Our observation shows the complexity of the therapeutic support of the neurofibromatosis of type 1. The contribution of non-invasive ventilation was illustrated by the arterial blood gas and clinical improvements as well as improved quality of life, with an acceptable level of inconvenience to the patient.<br /> (Copyright © 2018 SPLF. Published by Elsevier Masson SAS. All rights reserved.)
- Subjects :
- Female
Humans
Hypertension, Pulmonary diagnosis
Hypertension, Pulmonary etiology
Meningocele diagnosis
Meningocele etiology
Middle Aged
Radiography, Thoracic
Respiratory Insufficiency etiology
Thoracic Diseases diagnosis
Thoracic Diseases etiology
Dyspnea diagnosis
Dyspnea etiology
Neurofibromatosis 1 complications
Neurofibromatosis 1 diagnosis
Respiratory Insufficiency diagnosis
Subjects
Details
- Language :
- French
- ISSN :
- 1776-2588
- Volume :
- 35
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Revue des maladies respiratoires
- Publication Type :
- Academic Journal
- Accession number :
- 29602482
- Full Text :
- https://doi.org/10.1016/j.rmr.2017.10.662