A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins

Eur J Pediatr. 2015 Aug;174(8):1123-6. doi: 10.1007/s00431-015-2543-3. Epub 2015 Apr 22.

Abstract

This report demonstrates a late presenter and long-term survivor (38 months old) of alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) and with a heterozygous frameshift mutation in FOXF1. The mild phenotype may be due to his residual normal lung tissue as demonstrated in the chest computed tomography (CT) and histopathological findings.

Conclusion: We report the longest survivor of ACD/MPV. The mild phenotype is most likely due to the patient's residual normal lung tissue.

Publication types

  • Case Reports

MeSH terms

  • Forkhead Transcription Factors / genetics*
  • Frameshift Mutation
  • Heterozygote
  • Humans
  • Infant
  • Lung / diagnostic imaging
  • Lung / pathology*
  • Male
  • Persistent Fetal Circulation Syndrome / diagnostic imaging
  • Persistent Fetal Circulation Syndrome / genetics*
  • Persistent Fetal Circulation Syndrome / pathology*
  • Severity of Illness Index
  • Tomography, X-Ray Computed

Substances

  • FOXF1 protein, human
  • Forkhead Transcription Factors