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European Journal of Pediatrics

, Volume 174, Issue 8, pp 1123–1126 | Cite as

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

  • Yukie Ito
  • Takuma Akimoto
  • Kazutoshi Cho
  • Masafumi Yamada
  • Mishie Tanino
  • Tomoyuki Dobata
  • Masanori Kitaichi
  • Satoru Kumaki
  • Yoshikazu Kinugawa
Case Report

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.

What is Known:

Patients with ACD/MPV uniformly die early in life.

A previously reported case with the same mutation in FOXF1 died at 15 days after birth.

What is New:

The presented case is the longest survivor with this disease.

The patient’s mild phenotype can be explained by his residual normal lung tissue.

Keywords

ACD/MPV FOXF1 Mild phenotype CT Biopsy 

Abbreviations

ACD/MPV

Alveolar capillary dysplasia with misalignment of the pulmonary veins

CT

Computed tomography

NO

Nitric oxide

PCR

Polymerase chain reaction

Notes

Acknowledgments

We thank Dr. Christine Kwan for editing and revising this manuscript.

Conflict of interest

The authors declare no conflict of interest.

Authors’ contribution

YI, TD, SK, and YK treated the patient (YI wrote the manuscript under SK’s supervision, and YK took all responsibility of the therapy). MT and MK made the diagnosis using biopsy samples, and TA identified the FOXF1 mutation. KC and MY were consulted about the patient.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Yukie Ito
    • 1
  • Takuma Akimoto
    • 2
  • Kazutoshi Cho
    • 2
  • Masafumi Yamada
    • 3
  • Mishie Tanino
    • 4
  • Tomoyuki Dobata
    • 1
  • Masanori Kitaichi
    • 5
  • Satoru Kumaki
    • 1
  • Yoshikazu Kinugawa
    • 1
  1. 1.Department of PediatricsTeine Keijinkai HospitalSapporoJapan
  2. 2.Maternity and Perinatal Care CenterHokkaido University HospitalSapporoJapan
  3. 3.Department of PediatricsHokkaido University Graduate School of MedicineSapporoJapan
  4. 4.Department of Cancer PathologyHokkaido University Graduate School of MedicineSapporoJapan
  5. 5.Department of PathologyNational Hospital Organization Kinki-Chuo Chest Medical CenterSakaiJapan

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