Trametinib restores the central conducting lymphatic flow in a premature infant with Noonan syndrome

Erika K S M Leenders; Lotte E R Kleimeier; Lauren C Weeke; Catelijne H Coppens; Willemijn M Klein; Jos M T Draaisma

doi:10.1002/ccr3.9164

Trametinib restores the central conducting lymphatic flow in a premature infant with Noonan syndrome

Clin Case Rep. 2024 Jul 8;12(7):e9164. doi: 10.1002/ccr3.9164. eCollection 2024 Jul.

Authors

Erika K S M Leenders¹, Lotte E R Kleimeier², Lauren C Weeke², Catelijne H Coppens², Willemijn M Klein³, Jos M T Draaisma²

Affiliations

¹ Department of Human Genetics Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior Nijmegen The Netherlands.
² Department of Pediatrics Radboud University Medical Center, Radboud Institute for Health Sciences, Amalia Children's Hospital Nijmegen The Netherlands.
³ Department of Medical Imaging Radboud University Medical Center Nijmegen The Netherlands.

Abstract

We describe a premature hydropic infant with Noonan syndrome and a therapy refractory chylothorax. This was shown to be due to a central conducting lymphatic anomaly. After therapy with a MEK-inhibitor the infant recovered clinically and radiologically completely, possibly by restoring lymphatic valve function.

Keywords: CCLA; DCMRL; MEK‐inhibition; Noonan syndrome; RAS/MAPK pathway.

Publication types

Case Reports