Fatal outcome of anti-MDA5 juvenile dermatomyositis in a paediatric COVID-19 patient: a case report

Abstract

Anti-melanoma differentiation-associated gene 5 juvenile dermatomyositis (anti-MDA5 JDM) is associated with high risk of developing rapidly progressive interstitial lung disease (RP-ILD). Here we report an 11-year-old girl with anti-MDA5 JDM and RP-ILD which led to a fatal outcome, further aggravated by SARS-CoV-2 infection. She was referred to our hospital after being diagnosed with anti-MDA5 JDM and respiratory failure due to RP-ILD. On admission, fibrobronchoscopy with bronchoalveolar lavage (BAL) revealed Pneumocystis jirovecii infection so treatment with intravenous trimethoprim-sulfamethoxazole was initiated. Due to RP-ILD worsening, immunosuppressive therapy was intensified using methylprednisolone pulses, cyclophosphamide, tofacitinib and intravenous immunoglobulin without response. She developed severe hypoxemic respiratory failure, pneumomediastinum and pneumothorax, further complicated with severe RP-ILD and cervical subcutaneous emphysema. Three real-time RT-PCR for SARS-CoV-2 were made with a negative result. In addition, she was complicated with a secondary hemophagocytic lymphohistiocytosis and a fourth real-time PCR for SARS-CoV-2 performed in BAS sample was positive. Despite aggressive treatment of RP-ILD due to anti-MDA5 JDM, there was no improvement of respiratory failure in the following days and patient developed refractory septic shock and died. Anti-MDA5 JDM patients with RP-ILD have a poor prognosis with a high mortality rate. For this reason, intensive immunosuppressive therapy is essential including the use of promising drugs such as tofacitinib. COVID-19 in children with underlying health conditions like anti-MDA5 JDM may still be at risk for disease and severe complications.

Keywords: Anti-MDA5; COVID-19; interstitial lung disease (ILD); juvenile dermatomyositis; tofacitinib.

Figure 1.

Gottron’s papules with calcinosis over knees and elbows.

Figure 2.

Painful palmar papules.

Figure 3.

Time course of chest CT images. (A–D) Multifocal, bilateral and peripheral predominant ground glass opacities were found on chest computed tomography (CT) at the first admission in the previous hospital. (E–H) Chest CT at PICU admission in our hospital. Severe RP-ILD (peripleural ground-glass opacity and patchy distribution of areas of consolidation accompanied by traction bronchiectasis) further complicated with pneumomediastinum, pneumothorax and cervical subcutaneous emphysema. PICU: Paediatric Intensive Care unit; RP-ILD: rapidly progressive interstitial lung disease.

Figure 4.

The clinical course of the patient. The severe cytopenia, the levels of ferritin and tryglicerides, the treatment interventions, the respiratory and infectious events are shown. HF O2: high-flow oxygen therapy; TD: thoracic drainage; EI + MV: endotracheal intubation and mechanical ventilation; PJ: Pneumocystis jirovecii; TMP-SMX: trimethoprim-sulfamethoxazole; TZZ: tocilizumab; RDSV: remdesivir; HCQ: hydroxychloroquine; EC: Enterococcus faecium; mPSL: methylprednisolone pulses; MMF: mycophenolate mofetil; TAC: tacrolimus; IVCY: intravenous cyclophosphamide; IVIG: intravenous immunoglobulin; TOF: tofacitinib; CT: computerised tomography; RP-ILD: rapidly progressive interstitial lung disease; PT: pneumothorax; PMD: pneumomediastinum; PICU: paediatric intensive care unit; MOS: multi-organ system failure.