Congenital lymphatic malformations of the head and neck: clinical course and sirolimus therapy in infancy – case series

Background Lymphatic malformations (LMs) are congenital defects, resulting from abnormal venous endothelial development. Most lesions present as superficial masses located in the head and neck region. Lymphatic malformations may cause significant complications: extensive expansion on surrounding tissues, airway obstruction, respiratory insufficiency or feeding difficulties. Treatment remains challenging; standard methods (surgery, sclerotherapy) might be ineffective. Therefore, sirolimus, due to its antitumoral and antiangiogenic effect, has been introduced an important systemic treatment option, especially for widespread, complicated, unresectable, or resistant lesions in patients with lymphatic malformations. Case series presentation This case series illustrates the clinical presentation of three neonates with head and neck congenital lymphatic malformations, who were treated with sirolimus. Information, such as prenatal data, postnatal findings (including imaging studies), children’s general condition during hospitalization, clinical course, treatment response, safety profile of the medication, and follow-up were analysed, described and compared with data found in the literature. Conclusions. Our findings confirm that sirolimus is a potential treatment for mixed-type lymphatic malformations, with encouraging clinical response rates and manageable side effects. Further characterisation of affected patients and lymphatic malformations, including definition of therapeutic ranges and a systematic evaluation of treatment results would allow better selection of candidates, with improved overall results. Further multicentre and ultimately randomised, studies on sirolimus treatment for lymphatic malformations, would be helpful for improved care and effective treatment options for this vulnerable pediatric population.