Objectives: Congenital central hypoventilation syndrome (CCHS), otherwise known as Ondine's Curse, is a very rare syndrome which is present from birth. It is characterized by failure of autonomic control of breathing. These patients have a negligible respiratory sensitivity to hypercapnea and hypoxemia during sleep.
Methods: We are reporting a case of CCHS born and managed in the neonatal intensive care unit.
Results: The patient, a baby girl, was born to a 23-year old mother at 35 weeks gestation by normal vaginal delivery. The baby could not maintain spontaneous breathing after birth although the patient could cry and sustained self-respiration for a while. She was on the ventilator in the NICU. Initial blood gas revealed PCO2 of 93mm Hg. Whenever attempts were made to wean off from ventilatory support, the baby became hypercapnic (PCO2 in the range of 120–170). Several modes of ventilation were tried in form of nasal CPAP, BiPAP with mask, assisted ventilation, synchronizing intermittent mandatory ventilation, high frequency ventilation and negative pressure ventilation. An attempt at negative ventilation was not successful, as the baby developed subglottic narrowing with weakness of the larynx and trachea. Physical examination was normal including the nervous system and spine. Sonogram, CT scan and MRI of the brain including EEG were normal. Direct laryngoscopy revealed normal vocal cord function. Echocardiography ruled out cardiovascular anomalies. There was no primary pulmonary disease or neuromuscular dysfunction. The pH probe study revealed moderate gastroesophageal reflux. Genetic newborn screening and metabolic studies were normal. Routine chromosomal study including FISH was normal. A tracheostomy was done because of a prolonged need for mechanical ventilation. The infant developed enterococcal UTI and Pseudomonas pneumonia which were treated by antibiotic therapy. Subsequently, she was transferred to another center for a future implantation of diphragmatic pacing. The patient died prior to the procedure.
Discussion: How CCHS should be managed is unanswered. We will discuss the current trend in its management.
