PURPOSE: Primary spontaneous pneumothorax from subplueral bleb disease is an uncommon occurrence in pediatric patients. To our knowledge, this is the first reported case with 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 case presentation as well as a literature review follows.
METHODS: A literature search was performed using PubMed and Google Scholar. All articles pertaining to familial spontaneous pneumothorax occurring in children were investigated. These articles were queried for congenital or genetic syndromes associated with spontaneous pneumothoraces. The following data points were queried: age, clinical presentation, congenital or genetic syndromes associated with spontaneous pneumothoraces, family occurrences and follow-up evaluation.
RESULTS: These criteria were met by 38 articles, with 5 articles discussing monozygotic twins. Only 2 of the 5 monozygotic twin case reports were in pediatric patients. When considering all of the data queried, several conclusions regarding familial spontaneous pneumothoraces in the pediatric population can be drawn. The vast majority of pneumothoraces in children, like adults, are not spontaneous and not familial linked. When familial spontaneous pneumothoraces occur, rarely is there a congenital syndrome or identified genetic abnormality. Both autosomal recessive and autosomal dominant hereditary patterns have been identified. Genetic disorders identified are associated with: several haplotypes with the most common HLA A2 B40, the gene encoding folliculin, Alph-1-antitrypsin, Marfan’s syndrome, Ehlers-Danlos syndrome, and Birt-Hogg-Dube syndrome.
CONCLUSIONS: Primary spontaneous pneumothorax from subplueral bleb disease is an uncommon occurrence in pediatric patients. This is an unusual case report of monozygotic twins presenting at alternating intervals with a single sided spontaneous pneumothorax with a subsequent contralateral pneumothorax. Familial variants are rare. When they occur, physicians need to counsel family members to ensure appropriate and expedited treatment is not delayed.
CLINICAL IMPLICATIONS: 1. Be observant for subsequent contralateral pneumothoraces in the index patient. 2. Family members are at increased risk and should be counseled accordingly. 3. When spontaneous pneumothoraces occur, the physician should consider associated additional genetic disorders when appropriate
DISCLOSURE: The following authors have nothing to disclose: Luke Hofmann, Stephen Hetz
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