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Care Presentation: EM is a 32.5-week EGA infant who was born with sever congenital ascites (following repeated prenatal paracentesis) identified on prenatal ultrasound. Initial chest-abdomen imaging is shown in Figure 1. He required CPAP at delivery but was weaned of high flow nasal cannula with intermittent episodes of prolonged intubation during repeat paracentesis. Paracentesis demonstrated simple ascites rather than chylous fluid. Lymphangiograms demonstrated transient lymphatic leakage with resolution. Genetic evaluation revealed a pathogenic mutation in the PIEZO 1 gene for autosomal dominant DHS. This disorder had reduced penetrance and variable expressivity and symptoms range for absence of clinical features to lethal perinatal edema. During his first year of life EM developed severe chronic obstructive pulmonary disease with hypoxemia and a requirement for supplemental oxygen, restrictive lung disease secondary to thoracic dystrophy, and chronic lung disease of prematurity. He remained on supplemental oxygen for the first year and a half of life. Discussion: DHS is a rare form of autosomal dominant hemolytic anemia reported in 26 individuals among 7 families worldwide. Clinical presentation varies significantly and includes chronic anemia, neonatal edema and ascites, and lymphatic malformations. Symptoms may develop in utero, during the perinatal period , or later in adulthood. Pulmonary hypoplasia and respiratory insufficiency caused by pre/perinatal ascites have not been reported. DHS is caused by gain-of-function mutations in the PIEZO1 (16q24.3) gene, as was demonstrated in our patient. Mutations result in increased red cell cation membrane permeability, particularly potassium, leading to depletion, dehydration, and shortened red cell survival. Expression of PIEZO1 in lymphatics may explain pre/perinatal edema and ascites. EM developed sever prenatal ascites leading to abnormal abdominal musculature and impaired diaphragm movement and fetal breathing causing pulmonary hypoplasia with subsequent respiratory insufficiency at birth. The pathophysiology in this case is similar to that of prune belly, where abnormal abdominal musculature is known cause of impaired lung growth and development and subsequent respiratory compromise. Respiratory complications are primarily managed with supplemental oxygen and ventilatory support, if needed, until the lungs mature. Conclusion: This case highlights a previously unreported extremely rare disease, DHS, leasing to abnormal fetal breathing , marked pulmonary hypoplasia, and subsequent respiratory insufficiency.


Pediatrics | Pulmonology


Presented at the American Thoracic Society International Conference; Dallas, TX; May 17-22, 2019.

Dehydrated Hereditary Stomatocytosis Causing Sever Ascites Leading to Pulmonary Hypoplasia and Respiratory Insufficiency in a Neonate