Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia

Dimple Goel; Ju Lee Oei; Kei Lui; Meredith Ward; Antonia W Shand; David Mowat; Andrew J Gifford; Christine Loo

doi:10.1002/ccr3.888

Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia

Clin Case Rep. 2017 Mar 13;5(5):559-566. doi: 10.1002/ccr3.888. eCollection 2017 May.

Authors

Dimple Goel^{1

2}, Ju Lee Oei^{1

2}, Kei Lui^{1

2}, Meredith Ward^{1

2}, Antonia W Shand^{2

3}, David Mowat^{2

4}, Andrew J Gifford^{2

5}, Christine Loo^{5

6}

Affiliations

¹ Department of Newborn Care Royal Hospital for Women Sydney New South Wales Australia.
² School of Women's and Children's Health University of New South Wales Randwick New South Wales Australia.
³ Department of Maternal Fetal Medicine Royal Hospital for Women Sydney New South Wales Australia.
⁴ Department of Medical Genetics Sydney Children's Hospital Sydney New South Wales Australia.
⁵ Department of Anatomical Pathology (Seals) Prince of Wales Hospital Sydney New South Wales Australia.
⁶ University of Western Sydney Sydney New South Wales Australia.

Abstract

Alveolar capillary dysplasia (ACD) is a rare condition with variable presentation and clinical course. Clinicians should consider this diagnosis in neonates presenting with nonlethal congenital gastrointestinal malformation, a period of well-being after birth then unremitting hypoxemia and refractory pulmonary hypertension. Lung biopsy and FOXF1 gene testing may help in diagnosis.

Keywords: Alveolar capillary dysplasia; FOXF1 gene; gastrointestinal malformation; misaligned pulmonary vein; pulmonary hypertension.

Publication types

Case Reports