Atypical presentation and management of a neonate with alveolar
capillary dysplasia: A case report
To the Editor,
Alveolar capillary dysplasia with misalignment of capillary veins
(ACD/MCV) is a rare interstitial lung disease caused by maldevelopment
of alveoli and capillaries. Neonates typically present with intractable
pulmonary hypertension within the first 48 hours of life and have a very
short life expectancy 1. However, atypical cases have
been described with a late, less fulminant clinical presentation and
prolonged survival on pulmonary vasodilators, providing a window for
bilateral lung transplantation 2.
Case presentation
Our patient is a female neonate born at 37 weeks of gestation, weighing
3080 gr after an uncomplicated pregnancy. She was admitted to the
neonatal intensive care unit (NICU) at the age of two hours due to
pneumothorax, which was managed conservatively and absorbed. On the
second day of life, she was intubated due to worsening respiratory
distress. Over the next several days, unsuccessful extubation trials
were attempted. Eventually, she was weaned off oxygen on the 11th day.
However, on postnatal day 16, significant respiratory deterioration was
noted. Echocardiography revealed moderate pulmonary hypertension, and
sildenafil and dopamine were initiated. The patient’s clinical condition
and echocardiography findings gradually deteriorated. High-frequency
oscillatory ventilation (HFOV) was commenced with a fraction of inspired
oxygen (fiO2) up to 1.0. As our patient continued to deteriorate
(maximum oxygenation index OI:32 on day 23), we used intravenous
iloprost as a pulmonary vasodilator, titrated up to 20 ng/kg/min in
combination with levosimendan up to 0.1 mcg/kg/min, to improve cardiac
contractility and reduce afterload and pulmonary resistance. Of note,
nitric oxide was unavailable in our center at this time. Although
gradual improvement in pulmonary hypertension was noticed, our patient
developed severe pulmonary edema, which was managed with a continuous
intravenous infusion of furosemide titrated up to 0.4mg/kg/h.
Intravenous medications were gradually withdrawn, and we could switch to
conventional ventilation on the day of life 34. The infant was extubated
ten days later.
Computed tomography of the lungs showed bilateral symmetrical
ground-glass opacification, and genetic testing with whole exome
sequencing (WES) revealed a heterozygous missense variant of the FOXF1
gene (c.229T>C;p.Phe77Leu) in exon 1.
Our patient remained stable on a high-flow nasal cannula (HFNC) until
the 68th day when she was reintubated, and echocardiography revealed
severe pulmonary hypertension. On the 72nd day of life, she was
transferred to another NICU at the request of her parents. She remained
intubated, treatment with pulmonary vasodilators was continued, and
finally, a tracheostomy was performed. She eventually died at five
months of age. The parents have consent to report the medical details of
the neonate.