Clinico-pathological Characteristics of Congenital Pulmonary Lymphangiectasis: Report of Two Cases

Abstract

Congenital pulmonary lymphangiectasis (CPL) is a rare, poorly documented disease, characterized by abnormal dilatation of pulmonary lymphatics without lymphatic proliferation. This disease is seen almost exclusively in infancy and early childhood. It can usually be divided into primary (congenital) and secondary forms. The primary form presents in neonates, and the patients mostly die due to the respiratory distress, shortly after birth. The authors experienced two cases of primary CPL in a 13-day-old male neonate and a one-day-old male neonate, showing prominent lymphatic dilatation in the septal, subpleural, and peri-bronchial tissue throughout both lungs. The latter case was associated with congenital cardiac anomaly including single ventricle. These are unique cases of CPL in Korea of which the diagnosis was established through post-mortem examination. Therefore, the authors report these two cases with primary CPL with a review of the literature.

Outcome of children with pulmonary lymphangiectasis

“…2,6 Most cases are sporadic, 1,2,6 however there have been familial cases reported and associations with congenital anomalies such as Noonan, Ullrich-Turner or Down syndrome are known. 2,3,6,7 Historically Noonan et al (1970) classified lymphangiectasis into three patho-physiological groups: type 1generalized lymphangiectasis with thoracic and extrathoracic involvement, type 2-secondary to pulmonary venous obstruction due to congenital heart disease, and type 3-primary pulmonary developmental defect of the lung. 2,3,6,8 Patients with generalized lymphangiectasis (type 1) usually have a less severe form of pulmonary involvement and a better prognosis.…”

“…2 Faul et al proposed a new classification based upon pathological and clinical features. 7,8 In this classification lymphangiectasia can be divided into primary congenital and secondary forms. Primary PL has a neonatal onset and is usually fatal.…”

Congenital Pulmonary Lymphangiectasia, Associated with Total Anomalous Pulmonary Venous Return

“…4 Most cases of CPL are usually diagnosed by clinical and radiological exams, while some cases are confirmed by postmortem examinations. 5 However, our patient was an extremely rare case, diagnosed by an antemortem lung biopsy. We report a case of CPL with TAPVR, confirmed by an antemortem lung biopsy.…”

Congenital pulmonary lymphangiectasis

“…Biopsy has not been uniformly reported in all surviving patients with the diagnosis of CPL, partly due to spontaneous improvements in their clinical condition [29,[43][44][45]. Macroscopic and histologic examinations may show hypoplastic lungs with an irregular surface, scattered nodular changes along the visceral pleura, dilated or cystic intrapulmonary lymphatics without proliferation and thickened interlobular connective tissue [26,46,47]. On immuno-histochemical stains flat cells lining the thin wall of lymphatic spaces have been shown to be positive for several antibodies, like CD31, CD-34, and D2-40 (Figure 2), indicating their endothelial nature [47,48].…”

“…Macroscopic and histologic examinations may show hypoplastic lungs with an irregular surface, scattered nodular changes along the visceral pleura, dilated or cystic intrapulmonary lymphatics without proliferation and thickened interlobular connective tissue [26,46,47]. On immuno-histochemical stains flat cells lining the thin wall of lymphatic spaces have been shown to be positive for several antibodies, like CD31, CD-34, and D2-40 (Figure 2), indicating their endothelial nature [47,48]. Imaging findings for CPL on chest radiography and high-resolution computed tomography (Figures 3 and 4) are usually described as reticulo-nodular with increased interstitial markings or thickening, likely presenting dilated pulmonary lymphatics, that tend to regress after infancy, and bilateral pulmonary hyperinflation, that generally increases with age [44].…”