Cytokine Storm Syndrome Responsive to IL-1 Inhibition in Trisomy 21.

Background: Cytokine storm syndromes (CSS) are life-threatening systemic inflammatory disorders caused by immune system dysregulation. They can lead to organ failure and are triggered by various factors, including infections, malignancy, inborn errors of immunity, and autoimmune conditions. Trisomy 21 (TS21), also known as Down syndrome, is a genetic disorder associated with immune dysfunction, increased infection susceptibility, and inflammation. While TS21 has been linked to infectious-triggered hyperinflammation, its role as a primary cause of CSS has not been confirmed. Case Presentation. We present a case of a 16-year-old male with TS21 with fever, rash, joint pain, and abdominal symptoms. Extensive investigations ruled out infections, autoimmune conditions, malignancies, and inborn errors of immunity as triggers for a CSS. The patient's symptoms improved with treatment using IL-1 inhibition and corticosteroids. Conclusions: This case reinforces that TS21 is an immune dysregulation disorder and highlights the importance of considering CSS in TS21 patients, even when triggers are unclear. The positive response to IL-1 inhibition in this patient suggests that dysregulation of the IL-1 superfamily and the NLRP3 inflammasome may contribute to CSS in TS21. This finding raises the possibility of using IL-1 inhibition as a treatment approach for CSS in TS21 patients.

Car Seat Tolerance Screening for Late-Preterm Infants.

BACKGROUND: The belief that late-preterm infants have similar cardiorespiratory maturity to term infants has led many institutions to limit car seat tolerance screens (CSTSs) to those born early preterm. The objective of this study was to evaluate the incidence and predictors of CSTS failure, focusing on late-preterm infants. METHODS: We performed a retrospective review of late-preterm infants born from 2013 to 2017 to identify the incidence and predictors of CSTS failure, focusing on location of admission. We performed multivariable linear regression to assess the effect of CSTS results on length of stay (LOS). RESULTS: We identified 918 subjects who underwent CSTSs, of whom 4.6% failed. Those infants who were admitted to both the NICU and nursery before discharge had the highest failure rate (8.5%). Of those who failed, 24% failed ≥2 CSTSs. Of these, 20% (all from the nursery) were found to have obstructive apnea and desaturations, and a total of 40% required supplemental oxygen for safe discharge from the hospital. Although crude LOS was longer for those who failed an initial CSTS, when accounting for location of admission, level of prematurity, and respiratory support requirements, the CSTS result was not a significant predictor of longer LOS. CONCLUSIONS: A concerning number of late-preterm infants demonstrated unstable respiratory status when placed in their car seat. Those who failed repeat CSTSs frequently had underlying respiratory morbidities that required escalation of care. Although further study is warranted, LOS was not associated with CSTS results but rather with the cardiorespiratory immaturity noted or discovered by performing a CSTS.