CONGENITAL CENTRAL HYPOVENTILATION SYNDROME ASSOCIATED WITH HIRSCHSPRUNG DISEASE: THE IMPORTANCE OF DIFFERENTIAL AND EARLY DIAGNOSIS

Congenital central hypoventilation syndrome (CCHS, OMIM #209880), also known as Ondine's curse is characterized by episodes of central apnea, which is a dysfunction of the autonomic nervous system (ANS), occurring soon after birth or in the first month of life. Mutations in the PHOX2B gene, located on chromosome 4p12, are responsible for the development of the CCHS. This study reports the case of a newborn with recurrent episodes of apnea, diagnosed with CCHS associated with Hirschsprung's disease. Female patient, 10 years old, born at preterm, after birth presented episodes of apnea and oxygen saturation fall, which required positive pressure ventilation and admission to a pediatric intensive care unit. The patient was kept in Continuous Positive Airway Pressure (CPAP) during the first 24 h of life to treat the apnea, and after that, presented hypercapnia being submitted to intubation. She also had intestinal constipation and abdominal distension. Several tests were carried out without elucidation of the diagnostic, therefore the patient was follow-up with a geneticist, and after a genetic research using DNA sequencing, she was diagnosed with congenital central hypoventilation syndrome associated to Hirschsprung's disease. CCHS is a rare syndrome, but underdiagnosed. Clinical manifestations in the acute and chronic hypoventilation include apnea and hypoventilation at birth, oxygen desaturation and cyanosis, severe central sleep apnea, acquired pulmonary hypertension, and delayed recovered from anaesthesia or opioids are. Early recognition of the clinical features previously described is indispensable to the diagnostic, as well as access to genetic testing in order to corroborate CCHS.