Congenital chylothorax in siblings

Abstract

Case reportThe parents were of Tongan origin, unrelated and in good health. There was no history of familial or metabolic disease in either family. At the age of 26 years, the mother booked in her first pregnancy at eight weeks of gestation. She had an uneventful pregnancy until 33 weeks of gestational age when she developed polyhydramnios. An ultrasound scan revealed that the fetus was hydropic with bilateral pleural effusions and ascites. Fetal lung lengths were 34 mm and 42 mm which were within the normal range ( Fig. 1). At 34 weeks amnio-reduction was performed. However, the hydrops worsened. At 36 weeks, following a course of antenatal steroids, a live male infant was delivered by caesarean section. The birthweight was 3850 g and Apgar scores were given as 1 at 1,5 at 5 and 6 at 10 minutes, respectively. Despite aggressive treatment, including pleural and abdominal paracentesis, ventilation with high pressures, nitric oxide and inotropic support, he died two days after birth.Analysis of the pleural fluid revealed a high white cell count (21,000 x 10%) and lymphocyte predominance (95% lymphocytes), which suggested chyle. Echocardiography, abdominal ultrasound and karyotype were all normal. Congenital infection and metabolic screens were negative and fetomatemal haemonhage or haemol ysis were excluded. The post-mortem examination confirmed nonimmune hydrops with pleural effusions but no structural abnormality of the lymphatic system was identified. There was, however, evidence of pulmonary immaturity and hyaline membrane formation.The parents were counselled that congenital chylothorax was a sporadic condition and that the recurrence risk was low. Two years later, following an uneventful pregnancy, a normal female infant weighing 3380 g was delivered by repeat caesarean section at term.At 30 years of age, the mother booked again early in her third pregnancy. Ultrasound scans at 18 and 22 weeks were unremarkable, but at 34 weeks she again developed polyhydramnios. The ultrasound scan at this time demonstrated the presence of bilateral pleural effusions, ascites and oedema. The fetal lung lengths were 28 and 29 mm which were below the 5th centile for gestational age. At 35 weeks, following a course of antenatal steroids, bilateral fetal pleurocentesis was performed; 105 mL and 70 mL were drained from the left and right sides, respectively, and re-expansion of both lungs to 41 and 4 4 mm was achieved, which was well within the normal range. This suggested that the pleural effusions were of recent origin, with compression of well grown lungs. However, two days later, the pleural fluid had re-accumulated; a 3300 g live female infant was delivered by caesarean section.At birth the baby was grossly hydropic and required resuscitation with positive pressure ventilation and immediate bilateral pleural drainage. Apgar scores were 4 at 1 and 8 at 5 minutes, respectively. No dysmorphic features were noted. The ascites and oedema improved quickly, but pleural drainage continued until day 21. Initially, pleural losses wer...

High Dose Octreotide for the Treatment of Chylothorax in Three Neonates

“…Neonates with chylothorax may present with massive lymph loss inducing critical loss of fluid, lymphocytes, protein, coagulation factors, and antibodies [4]. There is no standard regime for the treatment of neonatal chylothorax, but many medical therapies have been reported such as total parenteral nutrition, medium-chain triglycerides, pleurodesis, and surgical interventions such as the ligation of the thoracic duct [1][2][3][4][5][6][7][8].…”

“…Chylothorax is an abnormal condition of lymphatic fluid collection in the pleural space and is caused by a variety of etiologies such as congenital abnormalities and postoperative complications. The diagnosis of chylothorax is usually established by a fluid analysis, including a triglyceride content ≥ 1.1 mmol/L and a total cell count of ≥ 1000 cells/mm 3 or ≥ 80% lymphocytes [1].…”

Congenital pulmonary lymphangiectasis

“…A male preponderance has been reported [2,28]. PL can be associated with chromosomal anomalies including Turner, Down and Phelan McDermid Syndrome [28,50,69]. Therefore a chromosomal disorder should be ruled out by array-CGH analysis on a high resolution platform (Table 1).…”

Successful treatment of familial congenital chylothorax by ligation of the thoracic duct: A case report

“…It has been observed that males are most commonly affected than females. Moreover; most of the cases involve the right side of the chest [3]. Chylothorax is usually induced spontaneously due to lymphatic malformations or may be caused during birth, due to a trauma in the thoracic duct following difficult labor [4].…”