Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?

Congenital Central Hypoventilation Syndrome is a rare disorder of autonomic and central nervous system dysfunction with impaired control of breathing. The authors report a 37- d-old girl infant with recurrent apnea requiring repeated mechanical ventilation with no evidence of neuromuscular, cardiac or lung disease. A mutation analysis of PHOX2B gene revealed 25 polyalanine repeat expansion mutation on chromosome 4p12. This article aims at raising awareness among pediatricians about molecular basis and availability of confirmatory genetic testing for diagnosis and to help with prognosis in this disorder.