Conclusion
Genetic testing should be considered early in an infant who presents
with central hypoventilation and hypotonia. When considering genetic
causes for hypoventilation, HIDEA syndrome is an important differential
when associated with hypotonia and other multisystemic features. Early
diagnosis can help with prognostication and counselling about future
pregnancies as well. More importantly, early diagnosis is crucial to
optimise adequate ventilatory management including early tracheostomy as
many require lifelong continuous or intermittent ventilatory dependence.
This minimises the complications of chronic hypoxia and reduces
mortality risk.