Background: Alveolar Capillary Dysplasia (ACD) is an exceedingly rare fatal and lethal developmental lung disorder mainly involving the major pulmonary vasculature, with a dismal prognosis. It usually presents in full term infants who develop respiratory distress on their first days of life as persistent pulmonary hypertension of the newborn (PPHN) that is unresponsive to treatment, and produces respiratory failure early in life. The majority of reported cases were found to be associated with other systemic anomalies, more frequently involving gastrointestinal system, as well as cardiovascular, urogenital, musculoskeletal, and right-left laterality anomalies. Since its first description, significant achievements in research have led to better understanding of the underlying molecular mechanism of ACD, and genetic studies have identified association with genomic alteration in the locus of the transcription factor FOXF1.
Objective: Here we present a case of female newborn who was referred to our tertiary center at the age of 5 months due to chronic hypoxia and failure to gain weight. Eventually, she was diagnosed as ACD.
Conclusion: ACD/MPV is a rare and lethal developmental disorder. Patients suffer from sever hypoxemia that progresses over time, although awareness is growing among physicians it can still be confused with idiopathic pulmonary hypertension as the presentation can be similar. This usually delays the diagnosis and leads to unnecessary suffering of patients and waist of hospitals resources. As soon as the diagnosis is suspected. Genetic testing should be done or histological exam should be performed, ideally before ECMO or even surgeries for CO occurring anomalies.