P348: NOTCH1-related disorder interfamilial variability: From Adams-Oliver syndrome to lymphatic dysplasia

Genetics in Medicine Open 2026 Open access

Read full text
Authors: Hannah Anderson, Emily Fleming, Vanina Taliercio, Josue Amilcar Flores Daboub
DOI: 10.1016/j.gimo.2026.103842
Cited by: 0

Abstract

The patient’s course was complicated by recurrent chylothoraces, requiring chest drainage, multiple thoracenteses, diuretics, and octreotide without significant improvement. Given the presence of diffuse lymphatic dysplasia and the lack of response to conventional management, sirolimus therapy was initiated. Sirolimus has demonstrated good outcomes in CCLA of other etiologies, such as MDFIC.

Fields of Study & Subjects

Lymphatic Disorders and Treatments Lymphatic System and Diseases Immunodeficiency and Autoimmune Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103842–103842
Publication date
1 January 2026
Language
EN