Acinar dysplasia of the lungs: variation in the extent of involvement and clinical features.

AIM: This study presents the clinicopathological features in three patients with acinar dysplasia, a very rare developmental abnormality of the lungs, to expand on the spectrum of the disease.

METHODS

The clinical and histological features in the biopsies and autopsies were reviewed and compared with those reported in literature and in other diffuse lung diseases in neonates.

RESULTS

All three patients presented at birth with severe respiratory distress. Two were siblings, with autopsy in both, and sequential lung biopsies in one. Histology showed spaces lined by ciliated columnar epithelium and separated by mesenchyme, with minimal saccule-like structures. The changes seemed considerably less severe in the biopsy than at autopsy. Both died, one at 6 hours and the other at 24 days with no improvement following ventilation and steroids. The third had a previous sibling who died at a few hours of age following severe respiratory distress. She was given ventilation and extracorporeal membranous oxygenation. Her biopsy showed changes similar to although less uniform than those in the biopsy of the previous patient. She improved slowly and was discharged at 4 months. At 18 months she was without tachypnoea and weaned off supplemental oxygen.

CONCLUSIONS

Acinar dysplasia may show more variation in the degree of involvement and clinical outcome than previously recognised, even within families, sometimes compatible with survival.