Fatal persistent pulmonary hypertension as part of 3q11.1-q21.3 deletion syndrome?

Abstract

We present a premature female neonate diagnosed with a rare multiple congenital anomalies (MCA) syndrome resulting from a 3q11.1-q21.3 deletion. This MCA disorder is characterized by developmental delay, brain anomalies (mainly agenesis of corpus callosum), characteristic facial features (short philtrum, protruding lips), and urogenital anomalies. In addition, the girl also exhibited unresponsive fatal persistent pulmonary hypertension of the neonate (PPHN). Diagnosis of chromosome 3q deletion was confirmed through comprehensive molecular analyses and PPHN through echocardiography. Management strategies were tailored to the specific phenotype presentation, with focus on providing support and comfort for the patient and the available treatment options for PPHN in our local setting. Despite intensive medical interventions, the patient died because of refractory PPHN in the neonatal period. To our knowledge, this is the first case with fatal PPHN in a patient with chromosome a 3q11.1-q21.3 deletion and the largest deletion thus far reported.