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Pulmonary agenesis association with nonimmune hydrops
W Engellenner1, C Kaplan, G L Van de Vegte
1Department of Pathology, SUNY Stony Brook 11794.
Pediatric Pathology
|January 1, 1989
Summary
Bilateral pulmonary agenesis, a rare condition, was identified in a hydropic infant, a combination not previously reported. This case suggests a potential new syndrome involving pulmonary, ocular, and renal malformations.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Pathology
Background:
- Bilateral pulmonary agenesis is a rare congenital malformation.
- Few cases of pulmonary agenesis have been documented in medical literature.
- Hydrops fetalis is a serious condition characterized by abnormal fluid accumulation in fetal tissues.
Observation:
- A 36-week-old hydropic female infant (46XX) presented with bilateral pulmonary agenesis.
- The infant also exhibited unilateral microphthalmia and bilateral renal dysplasia.
- Prenatal ultrasound revealed polyhydramnios and fetal hydrops.
Findings:
- This is the first reported case of bilateral pulmonary agenesis associated with hydrops fetalis.
- The autopsy revealed a structurally normal heart, with absent pulmonary connections and a partially closed ductus arteriosus.
- The combination of pulmonary, ocular, and renal findings may indicate a novel syndrome.
Implications:
- The findings challenge existing understanding of pulmonary agenesis.
- The partially closed ductus arteriosus is implicated as a potential cause of hydrops fetalis in this context.
- Alternative mechanisms for amniotic fluid origin, such as direct fluid transfer, are proposed due to absent fetal urine and pulmonary secretions.