Pneumomediastinum complicating COVID-19: a case series.

BACKGROUND: Pneumomediastinum is a rare complication of COVID-19 pneumonia, which may or may not be associated with invasive ventilatory support. Therefore, the report and findings associated with its evolution can be of great contribution in the management of this unknown disease. CASE PRESENTATION: Here, we present a series of four patients with severe pneumomediastinum requiring intensive care unit. These patients developed pneumomediastinum before or during orotracheal intubation (OTI) or without OTI. The four patients were three men and one woman with a mean age of 60.5 years (48-74 years). No patients had a known history of lung disease or traumatic events, except for one patient who had a history of smoking, but who was without parenchymal disease. All intubations were performed without complications. No cases of pneumomediastinum occurred after tracheostomy, and none of the patients had tomographic or bronchoscopic evidence of tracheal injury. Although the pneumomediastinum observed in our cases was apparently not related to a violation of the aerodigestive track, this complication was associated with a worse prognosis. CONCLUSION: Pneumomediastinum is a rare complication of COVID-19 pneumonia, and the most likely etiopathogenesis is severe pulmonary involvement, which may or may not be associated with invasive ventilatory support. Future studies with a greater number of cases should elucidate the relationship of pneumomediastinum to a probable prognostic factor.

Clinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE).

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive and fatal multisystem metabolic disorder. It presents with wide-ranging gastrointestinal and neurologic symptoms. It is caused by a mutation in the TYMP gene which impairs thymidine phosphorylase (TP) activity, therefore leading to the accumulation of thymidine and deoxyuridine in plasma and tissues. Thus, MNGIE can be diagnosed by findings of high levels of thymidine and deoxyuridine. Herein, we present the case of a 40-year-old male who presented with diarrhea, vomiting, and abdominal pain, severe weight loss, neurologic deficits, and distal motor weakness progressing over a period of 13 years. The combination of this broad clinical picture along with results of magnetic resonance imaging, electromyography, colonic biopsies, genetic testing, and elevated plasma and tissue thymidine and deoxyuridine levels confirmed the diagnosis of MNGIE. TYMP gene mutation impairs TP function. TP mutations in the nuclear DNA lead to mitochondrial DNA deletions causing mitochondrial failure and ultimately cell death. Treatment modalities are targeting the restoration of TP activity or aiming to decrease the high levels of thymidine and pyrimide. However, diagnosing this disease is still a challenge and often overdue. This patient's 13-year delay in diagnosis shows the importance of a complete neurological exam and muscle strength testing in patients with gastrointestinal symptoms. The diagnosis of MNGIE requires interdepartmental collaborative work for diagnosis delay prevention and for optimal patient care.