Successful use of non-invasive positive pressure ventilation in a patient with the severe form of X-linked myotubular myopathy

The severity of X-linked myotubular myopathy (XLMTM) ranges from mild to severe, depending on the level of ventilatory support required. Patients with the severe form of XLMTM usually die within the first year of life due to respiratory failure. Most survivors need tracheostomies, and there has only been one report about the use of non-invasive positive pressure ventilation (NPPV) in patients with the severe form of XLMTM because of the severity of the associated respiratory failure. We successfully applied NPPV with high-span positive inspiratory pressure (PIP) in a patient with the severe form of XLMTM, who also had secondary pectus excavatum.
Source: Brain and Development - Category: Neurology Authors: Tags: Case Report Source Type: research