Primary Pulmonary Lymphatic Disease

Molecular targeted treatment in infants with central conducting lymphatic anomalies

Vera C. van den Brink, Lotte E. R. Kleimeier, Erika K. S. M. Leenders, Willemijn M. Klein, Willem P. de Boode, Joris Fuijkschot, Sabine L. A. G. VranckenAmalia Children’s Hospital, Radboud University Medical Center. Netherlands European Journal of PediatricsEur J Pediatr 2025; 184: DOI: 10.1007/s00431-025-06376-2 AbstractCentral conducting lymphatic anomaly (CCLA) is a rare and potentially life-threatening […]

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Targeted Therapy for Complex Lymphatic Anomalies in Patients with Noonan Syndrome and Related Disorders

Erika K. S. M. Leenders, Vera C. van den Brink, Lotte E. R. Kleimeier, Danielle T. J. Woutersen, Catelijne H. Coppens, Jeroen den Hertog, Willemijn M. Klein, Tuula Rinne, Sabine L. Vrancken, Saskia N. de Wildt, Jos M. T. Draaisma, Joris FuijkschotRadboud University Medical Center and Amalia Children’s Hospital. University Medical Center Utrecht. Leiden University.

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The Nutmeg Lung Pattern in a Fetus with Hypoplastic Left Heart Syndrome and Turner Syndrome

Katrin Fricke, Katarina Övermo Tydén, Gunnar Bergman, Erik HedströmSkåne University Hospital and Lund University. Karolinska University Hospital and Karolinska Institutet. Sweden Pediatric CardiologyPediatr Cardiol 2025; DOI: 10.1007/s00246-025-03873-x AbstractThe “nutmeg lung pattern” on fetal magnetic resonance imaging (MRI) indicates pulmonary lymphangiectasia. This is associated with adverse outcomes, particularly in fetuses with congenital heart defects and impaired pulmonary

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Retinal detachment in a neonate with congenital chylothorax and purpura fulminans associated with the PAK2 genetic variant: A case report

Arijit Lodha, Majeeda Kamaluddeen, Stephanie Dotchin, Julie Lauzon, Patrick MitchellUniversity of Alberta. Cumming School of Medicine, University of Calgary. Canada International Journal of Surgery Case ReportsInt J Surg Case Rep 2025; 130: DOI: 10.1016/j.ijscr.2025.111341 AbstractIntroduction and importance: A potential relationship between bilateral retinal detachment, chylothorax, and purpura fulminans in a female neonate with a PAK2 gene variant

Retinal detachment in a neonate with congenital chylothorax and purpura fulminans associated with the PAK2 genetic variant: A case report Read More »

Lymphaticovenous and Lymph Node-to-Vein Anastomosis to Improve Milroy Disease-Related Chylothorax and Lymphedema

Feres Alshomer, Jeongmok Cho, Hyungjoo Noh, Changsik John Pak, Hyunsuk Peter Suh, Joon Pio HongUniversity of Ulsan College of Medicine and Seoul Asan Medical Center.Republic of Korea Plastic and Reconstructive SurgeryPlast Reconstr Surg 2025; 155: 610e-617eDOI: 10.1097/PRS.0000000000011635 AbstractBackground: Primary lymphedema is characterized by lymphatic dysplasia in which one variant is Milroy disease. The association with congenital chylothorax

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Successful Treatment of Congenital Chylothorax by Early Use of Prednisolone: A Case Report

Kyoka Hirano , Koji Nakae , Manaka Matsunaga , Kentaro Ueno , Yasuhiro OkamotoKagoshima University Hospital.Japan CureusCureus 2024; 16:DOI: 10.7759/cureus.60628 AbstractCongenital chylothorax is the most common form of pleural effusion during the neonatal period; however, no treatment strategy exists. The pathogenesis and etiology of this disease are not fully understood; hence, several cases are difficult to

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Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous PIEZO1 variant

Elizabeth H. Ketchum, Charles L. Groomes, Alexis N. Ghersi, Brian B. Graziose, Sharen C. Wilson, Sidney E. Zven, Rebecca L. Hicks, William A. Langley, Michael A. Reott Jr,. John P. Schacht, Elizabeth V. Schulz, Jerri CurtisUniformed Services University. Walter Reed National Military Medical Center. MNG Laboratories.United States Clinical Case ReportsClin Case Rep 2024; 12: DOI: 10.1002/ccr3.9082

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Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome

Isabel De Brouchoven, Juan Lorand, Léon Bofferding, Arthur Sorlin, An Van Damme, Olivier DanhaiveSaint-Luc University Hospital,. Luxembourg Hospital Center. Laboratoire National de Santé. University of California San Francisco.Belgium, Luxembourg and United States Frontiers in PediatricsFront Pediatr 2025; 13: DOI: 10.3389/fped.2025.1475143 AbstractIntroduction: Rare pathogenic variants in the PTPN11, KRAS, SOS1 and RAF1 genes are the main molecular causes of Noonan syndrome (NS).

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Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up

Antonia Pascarella, Giuseppe Limongelli, Alessandro De Falco, Elia Marco Paolo Minale, Giangiacomo Di Nardo, Giovanni Maria Di Marco, Geremia Zito Marinosci, Giorgia Olimpico, Paolo Siani, Daniele De BrasiSantobono-Pausilipon Children’s Hospital. University of Campania “Luigi Vanvitelli” and Monaldi Hospital. University “Federico II”. Italy ChildrenChildren 2024; 11: DOI: 10.3390/children11111342 AbstractRASopathies are a group of genetic syndromes caused by

Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up Read More »

MR Lymphangiography: Congenital Lymphatic Flow Disorders

Seunghyun Lee, Saebeom Hur, Young Hun Choi, Jae-Yeon Hwang, Jung-Eun CheonSeoul National University Hospital and College of Medicine.Republic of Korea Investigative RadiologyInvest Radiol 2024; DOI: 10.1097/RLI.0000000000001112 AbstractCongenital lymphatic flow disorders collectively refer to a heterogeneous group of diseases that manifest as chylothorax, chylous ascites, intestinal lymphangiectasia, protein-losing enteropathy, and peripheral extremity or genital lymphedema, all in

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