Pediatric bilateral spontaneous pneumothoraces in monozygotic twins.

Primary spontaneous pneumothorax from subpleural bleb disease is an uncommon occurrence in pediatric patients. This is a rare case of monozygotic twins presenting at alternating intervals with a single-sided spontaneous pneumothorax, only to have it surgically corrected, and to present later with a subsequent contralateral pneumothorax. A review of familial spontaneous pneumothoraces occurring in children was queried for congenital or genetic syndromes. We concluded that a vast majority of pneumothoraces in children, like adults, are not spontaneous and not familial linked. While they are rare, some congenital syndromes have been identified. The HLA haplotype A2 B40, the gene encoding folliculin, Alph-1-antitrypsin, Marfan's syndrome, Ehlers-Danlos syndrome and Birt-Hogg-Dube syndrome have all been associated with familial spontaneous pneumothoraces. Physicians need to counsel family members to ensure appropriate observation and expedited treatment is not delayed.