Introduction
Hypoventilation in infants is rare and can be derived from a peripheral or central cause. Central hypoventilation has its origins in the brainstem respiratory center and can be secondary to drugs or the central nervous system diseases. Primary central hypoventilation syndromes present a wide spectrum of clinical manifestations, usually either in association with a clinically and genetically well determined disease (e.g., Prader Willi syndrome, familial dysautonomia) or as congenital central hypoventilation syndrome (CCHS) most commonly secondary to PHOX2B anomalies . Peripheral causes include cardiac arrhythmias, underlying neuromuscular disease and mitochondrial diseases . In premature infants, the most common cause of hypoventilation is apnea of prematurity
We describe a patient who was born premature in our hospital and required extensive work up for his hypoventilation with a diagnosis of HIDEA syndrome (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy and eye abnormalities) based on whole exome sequencing showing homozygous likely pathogenic variants inP4HTM . This is the first case report of HIDEA syndrome in a premature neonate in South East Asia, and it is a rare and novel differential diagnosis in a child who presents with central hypoventilation.