HIDEA Syndrome: A rare cause of congenital hypoventilation in a premature infant

Abstract

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.