A rare case of a patient with cystinosis and COVID-19 pneumonia with difficult weaning from mechanical ventilation: the “pocus force”

Abstract

AbstractHere, we describe the case of a 39-year-old woman with cystinosis who already suffered from an extra parenchymal pattern of restrictive lung disease and, after SARS-CoV-2-related respiratory failure, had a difficult weaning from mechanical ventilation and required tracheostomy. In this rare disease, due to the mutation of the CTNS-gene located on chromosome 17p13, cystine accumulation in the distal muscle has been reported, even in the absence of manifest muscle fatigue. We were able to evaluate diaphragmatic weakness in this patient through the ultrasonographic evaluation of the diaphragm. We believe that diaphragm ultrasonography could be helpful to identify causes of difficult weaning thus supporting clinical decisions.