Case Report: Infection-triggered multiple organ dysfunction syndrome as the initial presentation of undiagnosed turner syndrome in an 11-Year-Old girl.

BACKGROUND

Turner syndrome (TS) is a common sex chromosome disorder typically associated with chronic complications such as short stature, premature ovarian insufficiency, and cardiovascular anomalies. However, acute life-threatening presentations, particularly infection-triggered severe multiple organ dysfunction syndrome (MODS) as the initial manifestation of previously undiagnosed TS in children, are extremely rare.

CASE PRESENTATION: An 11-year-old girl with previously undiagnosed TS presented with vomiting, altered mental status, fever, diarrhea, and cyanosis. Her condition rapidly progressed to septic shock with heart failure (ejection fraction 35%), acute respiratory distress syndrome, stage III acute kidney injury requiring continuous renal replacement therapy, acute liver injury, and disseminated intravascular coagulation. Genetic testing confirmed a 45, X karyotype with a large Xp22.33-q28 deletion (152.83 Mb). She also exhibited aortic calcification, hypertension, genital hypoplasia, intellectual disability, and characteristic dysmorphic features. Multidisciplinary management with broad-spectrum antibiotics, inotropic support, renal replacement therapy, and antihypertensive treatment led to stabilization. At recent outpatient follow-up, her ejection fraction had recovered to 63%.

CONCLUSION

This case demonstrates that TS can present as acute, life-threatening MODS in children and highlights the critical need for early genetic diagnosis in girls with unexplained multisystem organ dysfunction and dysmorphic features. Prompt multidisciplinary care can significantly improve prognosis, emphasizing the value of considering TS in such acute critical presentations.