Yuan Long

Background: In the post-pandemic era, the co-detection of SARS-CoV-2 and Mycoplasma pneumoniae ( M. pneumoniae ) is increasingly recognized in children, but its full clinical spectrum remains poorly characterized. Case report: We describe a previously healthy 20-month-old girl who presented with sepsis, acute liver failure (ALT, 17,134 U/L), and extreme hyperinflammation (ferritin, 10,929.6 ng/mL; interleukin-6 [IL-6], 74 pg/ml) associated with SARS-CoV-2 and M. pneumoniae co-detection. Despite initial improvement in the liver function with glucocorticoid therapy, she subsequently developed a secondary thrombotic microangiopathy (TMA)-like phenomenon characterized by severe thrombocytopenia (52 × 10 ⁹ /L), microangiopathic hemolysis, and acute kidney injury (creatinine, 181.5 μmol/L). A comprehensive etiological workup, including negative complement gene testing (whole-exome sequencing, whole-genome sequencing, and copy number variation analysis), supported a diagnosis of severe infection-associated secondary TMA-like phenomenon. The patient recovered after comprehensive supportive care, antimicrobial therapy, glucocorticoids, and prophylactic anticoagulation. Conclusion: This case delineates a clinical sequence from acute liver failure to a secondary TMA-like phenomenon associated with SARS-CoV-2 and M. pneumoniae co-detection. The transient C3 consumption with spontaneous recovery, together with negative complement gene testing, was documented. This report highlights the importance of vigilant monitoring for a secondary TMA-like phenomenon in children with severe hyperinflammation and co-detection of viral and bacterial pathogens.

Kawasaki disease (KD) is the leading cause of acquired pediatric heart disease, characterized by acute systemic vasculitis. We report a 7-year-6-month-old boy with typical KD [meeting the 2017 American Heart Association (AHA) diagnostic criteria] who responded completely to initial intravenous immunoglobulin (IVIG) therapy (2 g/kg), with rapid defervescence and normalized inflammatory markers. Despite this favorable initial response and no coronary abnormalities, he uniquely developed a triad of acute heart failure with cardiomegaly [New York Heart Association (NYHA) class II], severe hypertension (> 99th percentile), and early glomerular injury (elevated urinary albumin-to-creatinine ratio, urinary transferrin, and urinary albumin) during the clinically quiescent subacute phase. This “inflammatory-silent but vascular-loud” phenotype underscores that effective initial treatment and normalization of inflammatory markers do not equate to vascular safety, highlighting persistent endothelial dysfunction as a critical driver of morbidity. The case supports redefining subacute-phase monitoring to include blood pressure surveillance, comprehensive echocardiographic assessment of chamber dimensions and function, and screening for early glomerular injury.

Neurofibromatosis type 1 (NF1) and Peutz-Jeghers syndrome (PJS) are distinct autosomal dominant disorders. Their concomitant occurrence is exceptionally ra

Background: Cardiac rhabdomyoma is a benign cardiac tumor predominantly found in children and is often associated with tuberous sclerosis. Typically, this tumor is asymptomatic; however, its size and location can compromise cardiac function, potentially leading to heart failure, which may manifest as cyanosis of the lips and respiratory difficulties. Embryonal dysplastic neuroepithelial tumor is a slow-growing benign brain tumor classified as a neuroepithelial tissue tumor. It typically does not undergo malignant transformation and originates from the cerebral cortex. The concurrent occurrence of cardiac rhabdomyoma and embryonal dysplastic neuroepithelial tumor, manifesting as facial and perioral cyanosis, is relatively uncommon in pediatric patients. Case report: We present a case of a 4-year-and-4-month-old boy who was admitted for “recurrent facial and perioral cyanosis over the past year”. Prenatal four-dimensional ultrasound revealed strong echogenic foci within the ventricles, suggesting the presence of a cardiac rhabdomyoma. One year prior to admission, the child experienced recurrent episodes of facial and perioral cyanosis. Considering his medical history, the admission diagnosis was left ventricular outflow tract obstruction due to the cardiac rhabdomyoma. However, following a systematic evaluation and investigation, the definitive cause of the “facial and perioral cyanosis” was determined to be an embryonal dysplastic neuroepithelial tumor. The child subsequently underwent tumor resection, and pathological examination confirmed the preoperative diagnosis. Postoperatively, the child has remained free of facial and perioral cyanosis for over two years. Conclusion: The concurrent occurrence of cardiac rhabdomyoma and embryonal dysplastic neuroepithelial tumor is exceedingly rare. Clinicians must exercise caution when evaluating the etiology of a child's symptoms. This case emphasizes the necessity of increasing clinicians’ awareness of this rare concomitant occurrence and highlights the vital role of timely diagnosis and surgical intervention in enhancing patient outcomes.