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

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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.

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Abbreviations

ACD/MPV:

Alveolar capillary dysplasia with misalignment of the pulmonary veins

CT:

Computed tomography

NO:

Nitric oxide

PCR:

Polymerase chain reaction

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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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Authors and Affiliations

  1. Department of Pediatrics, Teine Keijinkai Hospital, 1-Jo, 12-1-40, Maeda, Teine-Ku, Sapporo, Hokkaido, 006-8555, Japan

    Yukie Ito, Tomoyuki Dobata, Satoru Kumaki & Yoshikazu Kinugawa

  2. Maternity and Perinatal Care Center, Hokkaido University Hospital, Sapporo, Japan

    Takuma Akimoto & Kazutoshi Cho

  3. Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan

    Masafumi Yamada

  4. Department of Cancer Pathology, Hokkaido University Graduate School of Medicine, Sapporo, Japan

    Mishie Tanino

  5. Department of Pathology, National Hospital Organization Kinki-Chuo Chest Medical Center, Sakai, Japan

    Masanori Kitaichi

Authors
  1. Yukie Ito
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  2. Takuma Akimoto
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  3. Kazutoshi Cho
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  4. Masafumi Yamada
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  5. Mishie Tanino
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  6. Tomoyuki Dobata
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  7. Masanori Kitaichi
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  8. Satoru Kumaki
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  9. Yoshikazu Kinugawa
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Corresponding author

Correspondence to Satoru Kumaki.

Additional information

Communicated by Beat Steinmann

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Ito, Y., Akimoto, T., Cho, K. et al. A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins. Eur J Pediatr 174, 1123–1126 (2015). https://doi.org/10.1007/s00431-015-2543-3

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  • DOI: https://doi.org/10.1007/s00431-015-2543-3

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