[Neurofibromatosis as a cause of breathlessness]

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.

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.

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.

Keywords: Chronical respiratory failure; Hypertension pulmonaire; Insuffisance respiratoire chronique; Meningoceles; Méningocèle; Neurofibromatose de type 1; Neurofibromatosis type 1; Non-invasive ventilation; Pulmonary hypertension; Ventilation non invasive.