RESUMEN
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive inborn error of immunity (IEI), which is accompanied by immune dysregulation. Hypoparathyroidism, adrenocortical failure and candidiasis are its typical manifestations. Here we report about recurrent COVID-19 in a 3-year-old boy with APECED, who developed retinopathy with macular atrophy and autoimmune hepatitis after the first episode of SARS-CoV-2 infection. Primary Epstein-Barr virus infection and a new episode of SARS-CoV-2 infection with COVID pneumonia triggered the development of severe hyperinflammation with signs of hemophagocytic lymphohistiocytosis (HLH): progressive cytopenia (thrombocytopenia, anemia, lymphopenia), hypoproteinemia, hypoalbuminemia, high levels of liver enzymes, hyperferritinemia, increased triglycerides levels; and coagulopathy with a low level of fibrinogen. Treatment with corticosteroids and intravenous immunoglobulins did not lead to a significant improvement. The progression of HLH and COVID-pneumonia resulted in a fatal outcome. The rarity and varied presentation of the HLH symptoms led to diagnostic difficulties and diagnosis delay. HLH should be suspected in a patient with immune dysregulation and impaired viral response. Treatment of infection-HLH is a major challenge due to the difficulties in balancing immunosuppression and management of underlying/triggering infection.
RESUMEN
INTRODUCTION: Coronavirus disease (COVID-19) has led to a global pandemic among patients of all ages around the world. A new delayed inflammatory syndrome, with potentially severe evolution, has been described in the pediatric population, a population previously considered to be less vulnerable to the severe forms of COVID-19. CASE REPORT: We describe the first clinical case of multisystem inflammatory syndrome (MIS-C) in a 7-year-old child of the Ternopil region, Ukraine. Our clinical case fulfills the Royal College of Paediatrics and Child Health definition of MIS-C temporarily associated with COVID-19 -systemic disease with long-term fever, multiorgan dysfunction, laboratory evidence of hyperinflammation, positive SARS-CoV-2 tests, and the absence of an alternative cause that would explain the clinical picture. The patient was treated according to the treatment guidelines and subsequently was discharged with the resolution of his clinical symptoms. CONCLUSIONS: This clinical case draws the attention of general practitioners and pediatricians to the importance of timely diagnosis of a rare, but potentially severe multisystem inflammatory syndrome temporarily associated with COVID-19 in children.