Atypical Presentation of Mixed Connective Tissue Disorder Involving Bilateral Diaphragm

Abstract

Pulmonary manifestations can be present in 20-80% of patients having mixed connective tissue disorder (MCTD) and are usually subacute. MCTD when associated with polymyositis can rarely involve the diaphragm, causing respiratory failure.We present herein the case of a 49-year-old female having MCTD with a component of polymyositis who presented with bilateral diaphragmatic paralysis followed by heart failure requiring respiratory support with non-invasive mechanical ventilation. We are aware of only one prior instance of MCTD associated with unilateral diaphragmatic weakness causing mild respiratory dysfunction. To the best of our knowledge, this is the second reported case of diaphragmatic involvement in the MCTD population, with bilateral diaphragmatic paralysis causing severe respiratory failure. This is also the first reported case of such an unusual initial presentation in this patient group. Pulmonary involvement has a poor prognosis. Early diagnosis with the initiation of therapy can improve mortality outcomes in this patient population.

Ultrasonic Evaluation of Diaphragm in Patients with Systemic Sclerosis

“…Earlier studies have identified several disorders as possible causes of diaphragmatic dysfunction, such as neuromuscular diseases [56], stroke with hemiplegia [38,57], prolonged artificial ventilation [25,43], damage to the phrenic nerve, disuse atrophy, drugs, infectious or inflammatory conditions, chronic obstructive pulmonary disease (COPD) and hyperinflation [58], systemic lupus erythematosus [59,60], mixed connective tissue disease [61], but, so far, there is little evidence regarding diaphragm function in SSc patients, and further prospective and randomized studies should be encouraged. In our study, there was a wide age range among participants, considering that SSc is a rare orphan disease.…”