No abstract

Chédiak-Higashi syndrome (CHS) is a rare disorder of immune deficiency with autosomal recessive inheritance. Over the past 20 years, ∼500 cases were published worldwide. The mean age of onset is 5-6 years. We report here a case of CHS in a boy aged 2½ years who presented to us with pneumonia which turned to be Chédiak-Higashi syndrome with a novel variant, not previously described in the literature, which is caused by mutations in the gene.This case is reported for its novel mutation, and the absence of the accelerated phase until now. Awareness, early recognition and management of this condition may prevent the preterm morbidity associated with this case.

The epidemiology of multisystem inflammatory syndrome in children (MIS-C) and the provisional case definition are still being updated by the WHO. There is no solid evidence regarding the clinical presentations, severity, and outcomes. This case report tackles a 4-year-old female. Her main manifestations were persistent high-grade fever (40.0°C), diarrhea, poor oral intake, fatigue, and less activity with mucocutaneous involvement. Blood test revealed elevated inflammatory markers, as well as D-dimer, cardiac enzymes, and IL-6 with lymphopenia. She had a history of coronavirus disease (COVID-19) infection 4 weeks prior to admission. We describe a patient diagnosed as MIS-C or so-called SARS-CoV-2-induced Kawasaki-like hyperinflammatory syndrome. It seems to be caused by delayed response to SARS-CoV-2. It mimics Kawasaki disease, with unique presentations, such as diarrhea, capillary leak, and myocardial dysfunction, complicated by macrophage activation syndrome. Eventually, she completely improved with aggressive management including intravenous immunoglobulin, intravenous methylprednisolone, anti-IL-6, and aspirin. This is one of the early cases presented to our tertiary hospital fulfilling the CDC criteria of MIS-C. Based on this case, we suggest that pediatricians need to be aware of such clinical presentations and early referral to tertiary care health facility for further diagnosis and management. MIS-C is not common but a highly critical complication of COVID-19 infection in pediatrics resulting in life-threatening illnesses. Knowledge about the wide spectrum of presenting clinical manifestations, disease severity, and early detection and management is crucial to prevent a serious outcome.

No abstract