Chylothorax and respiratory distress in a newborn with trisomy 21

Abstract

Trisomy 21 may present with congenital chylothorax giving rise to symptoms of respiratory distress.Trisomy 21 or Down syndrome is the most common chromosome aberration in the newborn. Its high incidence has led to the better understanding of congenital diseases seen in association with this syndrome which commonly involve the cardiovascular and gastrointestinal systems. However, one of the less,if not the least, known associated condition is the pleural eusion, mostly congenital chylothorax, which is a disease characterised by lymphatic¯uid collection in the thoracic cavity of the newborn due to the leakage from the thoracic duct. We report on a newborn with trisomy 21 referred to our hospital with signs and symptoms of respiratory distress.The patient,a male newborn weighing 3,500 g at birth, was born to a 33-year-old woman gravida 3 para 3 at 39 weeks gestation by normal spontaneous vaginal delivery. He had respiratory ®ndings such as tachypnoea and cyanosis after birth and was therefore followed up for the ®rst 3 days of life after which he was discharged due to the disappearance of these symptoms. He was referred to our hospital on the 4th day of life with the same respiratory ®ndings. On admission, his body temperature was 36.7°C, pulse rate 134/min and respiratory rate 102/min. He was hypotonic and had atypical facies with low-set ears, epicanthic folds, high-arched palate and short ®ngers. Peroral cyanosis and poor breath sounds and rales were noted on the right side of the chest, together with pansystolic murmur in the mesocardiac area. The liver was 4 cm below the right costal margin.Initial laboratory ®ndings were as follows: Hb 23 g/dl, haematocrit 71%, WBC 12800/mm 3 , platelets 55000/ mm 3 , dierential blood count 52% neutrophils, 48% lymphocytes. CRP was negative. AP chest X-ray revealed a right sided pleural eusion. Thorax CT showed signi®cant pleural eusion in the right and minimal pleural eusion in the left side of the chest. ECHO showed a patent foramen ovale. Chromosome analysis revealed a 47 XY+21 karyotype. The cranial and abdominal ultrasound, TORCH screen, and thyroid hormones were all normal. Thoracentesis yielded a yellowish¯uid of pH 7.0 and density of 1010 with 6300/mm 3 leucocytes (100% lymphocytes), 90 mg/dl triglyceride, 35 mg/dl cholesterol and 2.4 g/dl protein. There were no bacteria on the gram stain and the culture was negative.Polycythaemia was treated with partial exchange transfusion. Thrombocytopenia resolved thereafter. He required two thoracenteses to relieve respiratory distress. After starting milk feeds, the yellow transparent thoracentesis¯uid became opaque and chyliform associated with increased triglycerides; therefore breast feeding was stopped and medium-chain triglyceride formula was commenced. After 6 days, the pleural eusion on the chest ®lms resolved gradually and disappeared. Breast feeding was reinitiated and the patient was discharged 14 days after the admission. He is still on breast milk and in a healthy state.The pathogenesis of congenital chylothorax is s...

Congenital chylothorax: Clinical course and prognostic significance

“…Congenital chylothorax may occur in isolation or in association with certain genetic syndromes. It has been described in infants with Down syndrome, [10][11][12] Turner syndrome, 13 and other syndromes 6,14,15 and chromosomal aberrations. 6,[16][17][18] Association with primary congenital pulmonary lymphangiectasis, 19 H type fistula, 20 and bilateral agenesis of the superior vena cava with obstructive thoracic duct 21 was reported.…”

Five Cases of Congenital Chylothorax Treated by Intrapleural Minocycline

“…Although one patient (case 3) showed temporary reduction in effusion, complete improvement of pleural effusion could not be achieved. Trisomy 21 increases the incidence of lymph vessel anomaly, which may have been a contributing factor in the development of chylothorax in this patient 12 ; therefore, some different treatment might be necessary for a case of trisomy 21.…”

Cessation of severe chylothorax and chylous ascites in a newborn with trisomy 21 after whole blood pleurodesis: A case report

“…Established conservative therapy of connatal chylothorax alongside tapping the fluid is feeding medium-chain triglyceride formula, parenteral nutrition or administration of octreotide [5,6]. If these measures fail, pleurodesis is necessary.…”