OBJECTIVE: Case report and literature review for congenital pulmonary lymphangiectasis (CPL) CASE REPORT: Male fetus with bilateral pleural effusion, thoracoamniotic shunt, preterm delivery, and prolonged neonatal course with neonatal death at 3 months. Autopsy-identified CPL. DISCUSSION: Review of pathology, clinical course, and genetics of CPL. CONCLUSION: This postnatal diagnosis of CPL/Hennekam syndrome must be considered with prenatal counseling regarding a fetus with bilateral pleural effusions. This pathological entity is autosomal recessive and has a significant risk of lethality.
OBJECTIVE: Case report and literature review for congenital pulmonary lymphangiectasis (CPL) CASE REPORT: Male fetus with bilateral pleural effusion, thoracoamniotic shunt, preterm delivery, and prolonged neonatal course with neonatal death at 3 months. Autopsy-identified CPL. DISCUSSION: Review of pathology, clinical course, and genetics of CPL. CONCLUSION: This postnatal diagnosis of CPL/Hennekam syndrome must be considered with prenatal counseling regarding a fetus with bilateral pleural effusions. This pathological entity is autosomal recessive and has a significant risk of lethality.
Authors: Angie C Jelin; Nara Sobreira; Elizabeth Wohler; Benjamin Solomon; Teresa Sparks; Katelynn G Sagaser; Katherine R Forster; Jena Miller; P Dane Witmer; Ada Hamosh; David Valle; Karin Blakemore Journal: Prenat Diagn Date: 2020-02-17 Impact factor: 3.050
Authors: Cristiane Rúbia Ferreira; Verônica Sibre; Regina Schultz; Ana Maria Andrello Gonçalves Pereira de Melo; Silvia Maria Ibidi; Jackeline Della Torre Journal: Autops Case Rep Date: 2015-12-30