Familial isolated pulmonary hypoplasia: a case report, suggesting autosomal recessive inheritance

Abstract

The exceptional observation of a healthy couple with two girls and a boy suffering from pulmonary hypoplasia and two normal children is reported. The affected infants died 1, 2 and 20 h after birth respectively. No other malformations were found. Histological findings suggest that the underdevelopment of the lungs has its origin at a more proximal level than the terminal bronchioles. Autosomal recessive inheritance is suggested.

Imaging of primary unilateral pulmonary hypoplasia: a case report

“…It may be caused by an embryologic defect of the lung or vascular tissues, as in congenital acinar dysplasia [6,7] or by an in utero vascular accident. Only a few cases of primary unilateral pulmonary hypoplasia have been described in the literature with varying degrees of severity ranging from complete hypoplasia of one lung to simple hypoplasia of an isolated lobe [1,5,6,8,9], including in familial series [3,4].…”

Primary pulmonary hypoplasia: A case report and review of the literature

“…Primary pulmonary hypoplasia is a rare condition confined to single case reports or small case series (Table 1) 2,6−13 . This review concerns the clinical presentation, radiological and pathological features and examines the prognosis of this condition.…”

“…Clinically, there was uniformity between the cases. Presentation with respiratory distress within the first 5 min of birth was common 7−13 . Apgar scores were generally low 7,8,10 although some of the infants had good Apgar scores despite their respiratory disease 6 .…”

“…Presentation with respiratory distress within the first 5 min of birth was common 7−13 . Apgar scores were generally low 7,8,10 although some of the infants had good Apgar scores despite their respiratory disease 6 . All of the infants required mechanical ventilation and 100% oxygen to maintain arterial saturations 2,6−12 .…”

“…All of the infants required mechanical ventilation and 100% oxygen to maintain arterial saturations 2,6−12 . In most infants the respiratory status deteriorated leading to respiratory failure and death 2,6−13 . High ventilator pressures may be required.…”