Background: HIDEA syndrome is a rare and novel disease characterised by
hypotonia, hypoventilation, intellectual disability, epilepsy and eye
abnormalities. Diagnosis is made by genetic testing with exclusion of
other causes of hypoventilation. We present a case of a neonate born
premature to a pair of consanguineous parents with an atypical course of
bronchopulmonary dysplasia subsequently diagnosed with HIDEA syndrome.
Conclusion: This is the first case report of HIDEA syndrome in South
East Asia, broadening our understanding of the full phenotypic pattern
of HIDEA syndrome. Patients with HIDEA syndrome are at risk of
prematurity and hypothyroidism. Early diagnosis is crucial to optimise
adequate ventilatory management including early tracheostomy as many
require lifelong continuous or intermittent ventilation. This minimises
the complications of chronic hypoxia and reduces mortality risk. HIDEA
syndrome is an important differential diagnosis in the consideration of
an infant who presents with hypoventilation.