Autopsy and Case Reports
Autopsy and Case Reports
Article / Autopsy Case Report

Congenital generalized lymphangiectasia: a rare developmental disorder for non-immune fetal hydrops

Cristiane Rúbia Ferreira; Verônica Sibre; Regina Schultz; Ana Maria Andrello Gonçalves Pereira de Melo; Silvia Maria Ibidi; Jackeline Della Torre

Downloads: 14
Views: 1206


Firstly described by Rudolf Virchow in the 19th century, congenital generalized lymphangiectasia is a rare entity characterized by dilation of lymphatic vessels, and was recently classified in primary or secondary lymphangiectasia. Generalized forms may be diagnosed during pre-natal follow-up with ultrasound examination, and, depending on its severity, the newborn outcome is very poor. The authors report the case of a female newborn with a previous diagnosis of fetal hydropsy who was born after a full-term gestation with respiratory failure due to bilateral voluminous pleural effusion and ascites. Physical examination also disclosed syndromic facies. Despite all efforts of the intensive supportive care, the patient died after 24 days of life. The autopsy findings were consistent with the diagnosis of congenital pulmonary lymphangiectasia. The authors call attention to this rare diagnosis in patients with cavitary effusion and respiratory insufficiency at birth.


Lymphangiectasia, pulmonary, congenital, Respiratory Insufficiency, Autopsy


Wilson RD, Pawel B, Bebbington M, et al. Congenital pulmonary lymphangiectasis sequence: a rare, heterogeneous, and lethal etiology for prenatal pleural effusion. Prenat Diagn. 2006;26(11):1058-61. []. [PMID:16941717]

Virchow R. Gesammelte abhandlungen zur wissenschaftlichen medicin. Frankfurt: Meidinger Sohn & Comp; 1856.

Noonan JA, Walters LR, Reeves JT. Congenital pulmonary lymphangiectasis. Am J Dis Child. 1970;120(4):314-9. [PMID:5493829]

Reiterer F, Grossauer K, Morris N, Uhrig S, Resch B. Congenital pulmonary lymphangiectasis. Paediatr Respir Rev. 2014;15(3):275-80. []. [PMID:24997116]

Connell FC, Gordon K, Brice G, et al. The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings. Clin Genet. 2013;84(4):303-14. []. [PMID:23621851]

Bellini C, Boccardo F, Campisi C, Bonioli E. Congenital pulmonary lymphangiectasia. Orphanet J Rare Dis. 2006;1:43. [PMID:17074089]

Gupta K, Das A, Menon P, Kakkar N, Rao KL, Joshi K. Revisiting the histopathologic spectrum of congenital pulmonary developmental disorders. Fetal Pediatr Pathol. 2012;31(2):74-86. []. [PMID:22409407]

Laurence KM. Congenital pulmonary lymphangiectasis. J Clin Pathol. 1959;12(1):62-9. []. [PMID:13631084]

Vittet D. Lymphatic collecting vessel maturation and valve morphogenesis. Microvasc Res. 2014;96:31-7. []. [PMID:25020266]

Hirano H, Nishigami T, Okimura A, Nakasho K, Uematsu K. Autopsy case of congenital pulmonary lymphangiectasis. Pathol Int. 2004;54(7):532-6. []. [PMID:15189509]

Esther CR Jr, Barker PM. Pulmonary lymphangiectasia: diagnosis and clinical course. Pediatr Pulmonol. 2004;38(4):308-13. []. [PMID:15334508]

Bellini C, Mazzella M, Campisi C, et al. Multimodal imaging in the congenital pulmonary lymphangiectasia-congenital chylothorax-hydrops fetalis continuum. Lymphology. 2004;37(1):22-30. [PMID:15109074]


Publication date:

5696404a5ce02a517d000000 autopsy Articles

Autops Case Rep

Share this page
Page Sections