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Eur J Pediatr (2015) 174:11231126 DOI 10.1007/s00431-015-2543-3
CASE REPORT
A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins
Yukie Ito1 & Takuma Akimoto2 & Kazutoshi Cho2 & Masafumi Yamada3 & Mishie Tanino4 &
Tomoyuki Dobata1 & Masanori Kitaichi5 & Satoru Kumaki1 & Yoshikazu Kinugawa1
Received: 13 January 2015 /Revised: 9 April 2015 /Accepted: 13 April 2015 /Published online: 22 April 2015 # Springer-Verlag Berlin Heidelberg 2015
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 patients 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 patients mild phenotype can be explained by his residual normal lung tissue.
Keywords ACD/MPV . FOXF1 . Mild phenotype . CT . Biopsy
AbbreviationsACD/MPV Alveolar capillary dysplasia with misalignment of the pulmonary veins CT Computed tomographyNO Nitric oxidePCR Polymerase chain reaction
Introduction
Patients with alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV; OMIM 265380) usually present with respiratory distress resulting from persistent pulmonary hypertension in the early postnatal period and uniformly die early in life [3]. Recently, Stankiewicz et al. have
Communicated by Beat Steinmann
* Satoru Kumaki [email protected]
Yukie Ito [email protected]
Takuma Akimoto [email protected]
Kazutoshi Cho [email protected]
Masafumi Yamada [email protected]
Mishie Tanino [email protected]
Tomoyuki Dobata [email protected]
Masanori Kitaichi [email protected]
Yoshikazu Kinugawa [email protected]
1 Department of Pediatrics, Teine Keijinkai Hospital, 1-Jo, 12-1-40,Maeda, Teine-Ku, Sapporo, Hokkaido 006-8555, Japan
2 Maternity and Perinatal Care Center, Hokkaido University Hospital, Sapporo, Japan
3 Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan
4 Department of Cancer Pathology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
5 Department of Pathology, National Hospital Organization Kinki-Chuo Chest Medical Center, Sakai, Japan
1124 Eur J Pediatr (2015) 174:11231126