Related Experiment Video
Updated: May 10, 2025
Minimally Invasive Isolated Limb Perfusion (MI-ILP) for Locally Advanced Melanomas and Sarcomas of the Extremity
Published on: January 31, 2025
Efficacy of Sirolimus in Treating Refractory Lymphatic Malformation in Noonan Syndrome: A Case Study
Yuka Nakajima1, Yoh Watanabe1, Kohei Iwata1
1Division of Pediatric Endocrinology, Metabolism and Nephrology, Children's Medical Center, Osaka City General Hospital, Osaka 534-0021, Japan.
A female patient with Noonan syndrome, attributed to a pathogenic RIT1 variant, presented with white perineal discharge at 8 years and 5 months of age. She had a history of chylothorax and recurrent respiratory infections requiring hospitalization. Discharge analysis revealed 99.5% lymphocytes and elevated triglyceride levels (1939 mg/dL; 21.9 mmol/L). Magnetic resonance imaging and contrast-enhanced computed tomography identified lymphatic abnormalities extending from the thoracic to the pelvic region. We suspected that the chylous ascites was being discharged through the genitals. Administration of sirolimus, an mTOR inhibitor, was initiated, leading to a significant reduction in perineal chyle discharge and improved respiratory function with no adverse events. Sirolimus shows promise as a therapeutic intervention for lymphatic abnormalities in patients with Noonan syndrome; however, long-term follow-up is necessary to evaluate its efficacy and safety.
A female patient with Noonan syndrome, attributed to a pathogenic RIT1 variant, presented with white perineal discharge at 8 years and 5 months of age. She had a history of chylothorax and recurrent respiratory infections requiring hospitalization. Discharge analysis revealed 99.5% lymphocytes and elevated triglyceride levels (1939 mg/dL; 21.9 mmol/L). Magnetic resonance imaging and contrast-enhanced computed tomography identified lymphatic abnormalities extending from the thoracic to the pelvic region. We suspected that the chylous ascites was being discharged through the genitals. Administration of sirolimus, an mTOR inhibitor, was initiated, leading to a significant reduction in perineal chyle discharge and improved respiratory function with no adverse events. Sirolimus shows promise as a therapeutic intervention for lymphatic abnormalities in patients with Noonan syndrome; however, long-term follow-up is necessary to evaluate its efficacy and safety.
