Fetal Hydrops and Familial Pulmonary Lymphatic Hypoplasia

Abstract

Two siblings were born with pleural effusions and hydrops. The first infant was a 26-week-old gestation male and died at 8 hours of life with radiographically small lungs and pulmonary insufficiency. No lung tissue was obtainable. This pregnancy was followed by two normal term infants, a male and female. The fourth pregnancy resulted in a female born at 35 weeks' gestation with pleural effusion and hydrops who died at 32 months of age. This infant was discharged from hospital at 32 days of age with small pleural effusions, but needed supplemental oxygen and daily diuretics to control edema. There were 14 additional admissions until death-all for respiratory distress or infections. An open lung biopsy at 2 months, showed dilated pleural lymphatics, with hypoplasia of the acinar and terminal bronchiolar lymphatics. At postmortem examination there was a markedly thickened pleura, and slit-like hypoplastic lymphatics of the acinar and terminal bronchioles and interlobular septal regions. This is the second family reported with these distinctive pulmonary intra-acinar and peri-acinar hypoplastic lymphatics. This disease is compatible with an autosomal recessive mode of inheritance.

Lymphatic ontogeny and effect of hypoplasia in developing lung

“…Congenital neonatal pulmonary lymphatic hypoplasia is rare but often leads to death (Thibeault et al, 2002(Thibeault et al, , 1995. Familial pulmonary lymphatic hypoplasia (Thibeault et al, 2002) with hypoplasia or absence of lymphatics in interlobular septa and along intra-acinar arteries is fatal for neonates.…”

“…Familial pulmonary lymphatic hypoplasia (Thibeault et al, 2002) with hypoplasia or absence of lymphatics in interlobular septa and along intra-acinar arteries is fatal for neonates. In pulmonary lymphangiectasia there is dilation of lymphatic vessels and development of lymphatic valvular incompetence (El-Chemaly et al, 2008).…”

Aetiology, Diagnosis and Treatment of Hydrops Foetalis

“…Right-sided congenital diaphragmatic hernia (CDH) with herniated liver tissue may also lead to NAHF [56]. Familiar pulmonary lymphatic hypoplasia is an autosomal recessive inherited disease with pleural effusions and NAHF in the second half of gestation due to hypoplasia of the distal intralobular and terminal bronchiolar lymphatic system [57]. Aspecific foetal pleural effusion, one of the features (or causes) of hydrops foetalis, can be either unilateral or bilateral.…”

“…It is found in 1:15,000 pregnancies and is associated with lung tumours, goitre, viral infections (adenovirus, cytomegalovirus and parvo B19 virus), and trisomy 21. The pathophysiology of hydropic changes in primary pleural effusion is probably vena cava obstruction and cardiac obstruction resulting in low output cardiac failure [57].…”