Congenital pulmonary lymphangiectasia

Abstract

Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease. Disease name and synonyms Pulmonary lymphangiectasiaPulmonary cystic lymphangiectasis Pulmonary lymphangiomatosis Definition and diagnostic criteriaCongenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and is characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation. On the basis of improved characterization of the clinical presentation and recent noteworthy advances in intensive neonatal care, the original classification [1] has been modified and PL

Cutis Marmorata Telangiectatica Congenita Presenting as a Fetal Hemothorax

“…The patient had an unusual presentation with intermittent presence of both pericardial and pleural effusions. Spontaneous resolutions of both pleural and pericardial effusions have been noted in many conditions, but the intermittent presence of both individually is not typically seen [6]. The persistent dark-red fluid with a low hematocrit and the absence of acute changes in fetal status were consistent with a chronic state, rather than an iatrogenic hemothorax from the procedure which would have resulted in the effusion demonstrating a higher hematocrit than the 20% noted on the specimen.…”

“…At birth, mechanical ventilation and pleural drainage are typically necessary to improve respiratory status. Congenital PL oftentimes requires therapy and symptomatic treatment of recurrent cough and wheeze, symptoms similar to childhood asthma [6]. To our knowledge, this is the first report of both congenital PL and CMTC together.…”

“…She was subsequently admitted at 2 years of age for respiratory compromise most consistent with asthma. Additionally, further pediatric workup at 3 years of age led to a diagnosis of pulmonary lymphangiectasia (PL), a rare developmental disorder involving the lung, which is characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation [6]. She is currently a healthy, vibrant 4-year-old girl, without active medical issues.…”

Congenital pulmonary lymphangiectasis

“…Bellini et al [2] named several disease names as synonyms including pulmonary lymphangiectasia, pulmonary cystic lymphangiectasis, and pulmonary lymphangiomatosis. The latter is a rare disease characterized by diffuse infiltration of lymphangiomas in the lung, bone, and other tissues and is therefore, quite different to CPL [31].…”

“…This classification has been modified and, on the basis of improved clinical characterization and advances in neonatal intensive care, been divided into two major categories, defined as primary and secondary CPL ( Figure 1) [2,3].…”