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.