Abstract
Introduction and importance:
Neurofibromatosis type 1 (NF1) is a relatively common genetic disorder resulting from NF1 gene mutations. It causes neurofibromas, café-au-lait spots, Lisch nodules, and potential tumors/cognitive issues. Variable symptom severity challenges diagnosis and management, which currently focuses on symptom control and monitoring, as there's no cure. Research aims for better treatments. COVID-19, caused by SARS-CoV-2, emerged in 2019, becoming a global pandemic with transmission via respiratory droplets. Symptoms range from mild to deadly, with asymptomatic spread complicating control. Global responses involved lockdowns, masks, and vaccination. It strained healthcare and economies, shifting work practices. Current management emphasizes immunization and public health strategies for mitigation.
Case present:
An 8-year-old boy with NF1 presented with fever, respiratory distress, cough, lethargy, and rhinorrhea after three days of illness. Examination revealed pharyngitis, wheezing, and café-au-lait spots. A rapid COVID-19 test was positive; chest X-ray showed perihilar opacities and lab work revealed lymphopenia and elevated CRP confirming COVID-19 pneumonia. He received supportive care including oxygen, IV fluids, and antipyretics. Remdesivir was considered but ultimately unnecessary due to improvement. His symptoms resolved, oxygen was weaned, and he was discharged on day five with follow-up instructions.
Conclusion:
This case highlights COVID-19 in an NF1 child, raising questions about genetic disorder susceptibility. While symptoms were mild, it emphasizes vigilant monitoring and tailored care for NF1 children with COVID-19, alongside multidisciplinary management and vaccination. More research is needed to understand COVID-19's impact on this vulnerable population and guide future care.