Effective treatment with sirolimus in a 6-year-old boy with tracheal vascular malformation initially misdiagnosed as acute laryngitis: a case report
摘要
Tracheal vascular malformations are rare congenital lesions that often mimic pediatric acute laryngitis, causing misdiagnosis and delayed care—with greater challenges when caregivers decline angiography and evidence for such scenarios is scarce. Though sirolimus works for vascular malformations, its use in misdiagnosed pediatric tracheal cases is underreported, making this case novel for addressing angiography refusal and showing sirolimus-induced rapid symptom resolution to guide complex pediatric airway care.
Case presentationA 6-year-old Han Chinese boy had 6 days of cough, wheezing, and dyspnea, initially misdiagnosed as acute laryngitis and transferred. On admission (day 6), he showed mild three-depression sign, laryngeal stridor, heart rate of 94 beats per minute, and respiratory rate of 42 respirations per minute. Contrast-enhanced neck computed tomography on day 7 revealed a subglottic mass causing airway compression; bronchoscopy on day 8 induced cyanosis (oxygen saturation 85%) requiring intubation, and magnetic resonance imaging on day 9 suggested vascular malformation. His parents refused digital subtraction angiography. Oral sirolimus (0.08 milligrams per square meter per day) was initiated on day 11, achieving complete lesion resolution by day 22 (with a serum sirolimus trough level of 5.16 nanograms per milliliter). The patient successfully underwent mechanical ventilation weaning on day 20, was discharged in stable condition on day 28, and maintained stable status during follow-up on days 106 and 158, with no adverse events observed.
ConclusionsThis case highlights considering tracheal vascular malformation in refractory pediatric laryngeal obstruction, supports multimodal imaging for diagnosis without digital subtraction angiography, and confirms sirolimus as a safe, rapid first-line option to guide care and personalized dosing research.