Klin Padiatr 2017; 229(04): 205-208
DOI: 10.1055/s-0043-112500
Review
© Georg Thieme Verlag KG Stuttgart · New York

Congenital Pulmonary Lymphangiectasia: A Disorder not only of Fetoneonates

Angeborene pulmonale Lymphangiektasie: Keine ausschließliche Störung der Perinatalen Periode
Shi-Min Yuan
1   Department of Cardiothoracic Surgery, The First Hospital of Putian, Teaching Hospital, Fujian Medical University, Putian, China
› Author Affiliations
Further Information

Publication History

Publication Date:
17 July 2017 (online)

Abstract

Congenital pulmonary lymphangiectasia (CPL) is a rare developmental disorder of the lung, characterized by dilation of pulmonary subpleural, interlobar, perivascular and peribronchial lymphatics. The incidence of CPL among stillborn and neonates was estimated to be <1%. The etiology of CPL is unknown. However, it has been suspected to be of a genetic background. Recent basic studies revealed that it might be caused by the FOXC2, Vegfr-3 and integrin α9β1gene mutations. A clinical diagnosis of CPL can be made much easier in full-term neonates who present with respiratory distress, pleural (especially chylous) effusions with or without generalized edema. In infancy, the diagnosis seems to be more difficult due to the nonspecific respiratory symptoms like persistent tachypnea, cough and wheeze. Lung biopsy with subsequent histological and immunohistochemical studies is the golden diagnostic method of CPL. Immunohistochemical staining for endothelial cell markers CD31, CD34 and D2-40 confirms lymphatic origin. Therapeutic strategies include supportive, nutritional, investigational, aggressively interventional and surgical regimens, most of which have shown promising outcomes. Although CPL was once regarded as a disorder of very poor prognosis in neonatal onset cases, teenager and adult patients have shown good outcomes upon long-term follow-up.

Zusammenfassung

Die angeborene pulmonale Lymphangiektasie (CPL) ist eine seltene Entwicklungsstörung der Lunge, die durch eine Dilatation der pulmonalen subpleuralen, interlobären, perivaskulären und peribronchialen Lymphgefäße charakterisiert ist. Die Inzidenz der CPL bei Totgeburten und Neugeborenen wird <1% geschätzt. Die Ätiologie der CPL ist unbekannt. Allerdings wird ein genetischer Hintergrund vermutet. Neuere Grundlagenstudien zeigten, dass die CPL durch FOXC2, Vegfr-3 und Integrin α9β1-Genmutationen verursacht sein könnte. Die klinische Diagnose der CPL ist sehr viel einfacher in Reifgeborenen zu stellen, die Atemnot, Pleuraergüsse (vor allem chylöse) mit und ohne generalisiertem Ödem aufweisen. In der frühen Kindheit ist die Diagnose aufgrund der unspezifischen respiratorischen Symptomatik wie persistierende Tachypnoen, Husten oder Röcheln schwerer zu stellen. Die Lungenbiopsie mit anschließenden histologischen und immunhistochemischen Untersuchungen ist der Goldstandard für die Diagnose der CPL. Die immunhistochemische Färbung der Endothelzellmarker CD31, CD34 und D2-40 bestätigt den lymphatischen Ursprung. Die Behandlungsstrategien umfassen unterstützende, alimentäre, in Erprobung befindliche, aggressiv-interventionelle und chirurgische Behandlungspläne, von denen die meisten ermutigende Ergebnisse zeigten. Obwohl die CPL einst bei Fällen mit Ausbruch im Neugeborenenalter als Erkrankung mit sehr schlechter Prognose galt, zeigen Teenager und erwachsene Patienten in der Langzeit-Nachbeobachtung gute Verläufe.

 
  • References

  • 1 Baird AR, Nwosu CR, Crichton F. et al. Isolated congenital pulmonary lymphangiectasis in a dizygotic twin pregnancy. J Obstet Gynaeco 1997; 17: 492-494
  • 2 Barker PM, Esther Jr CR, Fordham LA. et al. Primary pulmonary lymphangiectasia in infancy and childhood. Eur Respir J 2004; 24: 413-419
  • 3 Bellini C, Boccardo F, Campisi C. et al. Congenital pulmonary lymphangiectasia. Orphanet J Rare Dis 2006; 1: 43
  • 4 Bellini C, Boccardo F, Campisi C. et al. Pulmonary lymphangiectasia. Lymphology 2005; 38: 111-121
  • 5 Bonioli E, Bellini C. Congenital Pulmonary Lymphangiectasia. https:// rarediseases.org/rare-diseases/congenital-pulmonary-lymphangiectasia/ Accessed on January 14, 2017
  • 6 Bouchard S, Di Lorenzo M, Youssef S. et al. Pulmonary lymphangiectasia revisited. J Pediatr Surg 2000; 35: 796-800
  • 7 Brown M, Pysher T, Coffin CM. Lymphangioma and congenital pulmonary lymphangiectasis: a histologic, immunohistochemical, and clinicopathologic comparison. Mod Pathol 1999; 12: 569-575
  • 8 Chapdelaine J, Beaunoyer M, St-Vil D. et al. Unilobar congenital pulmonary lymphangiectasis mimicking congenital lobar emphysema: an underestimated presentation?. J Pediatr Surg 2004; 39: 677-680
  • 9 Davydova N, Harris NC, Roufail S. et al. Differential receptor binding and regulatory mechanisms for the lymphangiogenic growth factors VEGF-C and VEGF-D. J Biol Chem 2016; 291: 27265-27278
  • 10 Eom M, Choi YD, Kim YS. et al. Clinico-pathological characteristics of congenital pulmonary lymphangiectasis: report of two cases. J Korean Med Sci 2007; 22: 740-745
  • 11 Esther Jr CR, Barker PM. Pulmonary lymphangiectasia: diagnosis and clinical course. Pediatr Pulmonol 2004; 38: 308-313
  • 12 Faul JL, Berry GJ, Colby TV. et al. Thoracic lymphangiomas, lymphangiectasis, lymphangiomatosis, and lymphatic dysplasia syndrome. Am J Respir Crit Care Med 2000; 161 3 Pt 1 1037-1046
  • 13 Finder J, Steinfeld J. Congenital pulmonary lymphangiectasia. N Engl J Med 2004; 350: 948 author reply 948
  • 14 Gray M, Kovatis KZ, Stuart T. et al. Treatment of congenital pulmonary lymphangiectasia using ethiodized oil lymphangiography. J Perinatol 2014; 34: 720-722
  • 15 Hwang JH, Kim JH, Hwang JJ. et al. Pneumonectomy case in a newborn with congenital pulmonary lymphangiectasia. J Korean Med Sci 2014; 29: 609-613
  • 16 Hwang SW, Kim MS, Park PE. et al. Congenital pulmonary lymphangiectasia, associated with total anomalous pulmonary venous return. Korean J Pathol 2011; 45: 650-653
  • 17 Jacquemont S, Barbarot S, Bocéno M. et al. Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad's report. Am J Med Genet 2000; 93: 264-268
  • 18 Lee SY, Yang SR, Lee KR. Congenital pulmonary lymphangiectasia with chylothorax. Asian Cardiovasc Thorac Ann 2002; 10: 76-77
  • 19 Malleske DT, Yoder BA. Congenital chylothorax treated with oral sildenafil: a case report and review of the literature. J Perinatol 2015; 35: 384-386
  • 20 Mettauer N, Agrawal S, Pierce C. et al. Outcome of children with pulmonary lymphangiectasis. Pediatr Pulmonol 2009; 44: 351-357
  • 21 Moerman P, Vandenberghe K, Devlieger H. et al. Congenital pulmonary lymphangiectasis with chylothorax: a heterogeneous lymphatic vessel abnormality. Am J Med Genet 1993; 47: 54-58
  • 22 Noonan JA, Walters LR, Reeves JT. Congenital pulmonary lymphangiectasis. Am J Dis Child 1970; 120: 314-319
  • 23 Petrova TV, Mäkinen T, Mäkelä TP. et al. Lymphatic endothelial reprogramming of vascular endothelial cells by the Prox-1 homeobox transcription factor. EMBO J 2002; 21: 4593-4599
  • 24 Reiterer F, Grossauer K, Morris N. et al. Congenital pulmonary lymphangiectasis. Paediatr Respir Rev 2014; 15: 275-280
  • 25 Rettwitz-Volk W, Schlösser R, Ahrens P. et al. Congenital unilobar pulmonary lymphangiectasis. Pediatr Pulmonol 1999; 27: 290-292
  • 26 Ruggeri G, Destro F, Maffi M. et al. A rare case of chylothorax due to pulmonary lymphangiectasia in a 7-year-old boy. European J Pediatr Surg Rep 2013; 1: 18-20
  • 27 Singh P, Ahmed F. Congenital pulmonary lymphangiectasis resulting in pleural effusions managed by thoracoamniotic shunting. J Ped Surg Case Reports 2013; 1: 147-151
  • 28 Stevenson DA, Pysher TJ, Ward RM. et al. Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia. Am J Med Genet A 2006; 140: 368-372
  • 29 Tuladhar JT, Storgion SA, Bugnitz MC et al. Congenital pulmonary lymphangiectasia associated with congenital heart disease. http://the-medical-dictionary.com/cor_triatriatum_article_5.htm Accessed on January 14, 2017
  • 30 Wagenaar SS, Swierenga J, Wagenvoort CA. Late presentation of primary pulmonary lymphangiectasis. Thorax 1978; 33: 791-795
  • 31 Yalcin S, Ciftci A, Karnak I. et al. Childhood pneumonectomies: two decades’ experience of a referral center. Eur J Pediatr Surg 2013; 23: 115-120