Ref Number = PITIKA-ASPR0245
Vera May C. Depano, M.D.
Objective: Congenital central hypoventilation syndrome (cchs), an extremely rare life threatening and lifelong multisystem disorder with only more than 200 cases reported in the worldwide literature, characterized by dysfunction of automatic nervous system and manifest as failure of ventilator homeostasis especially during sleep. Other related dysfunction also considered like tumors of neural crest origin and hirschsprung's disease. Diagnosis is made by exclusion in which they commonly presented a recurrent apnea.  Mostly newborn patients who presented with cessation of breathing are often due to prematurity. Approach to patient with episode of apnea requires an orderly, painstakingly detailed history and thorough physical examination. Assessing episode of apnea is challenging and confusing task because of its close proximity to etiological factor such as neurological, infection, cardiovascular, pulmonary, metabolic, hematological, gastrointestinal and drugs. 
Case: In this report, a case of a full term male newborn with uncomplicated vaginal delivery was brought to medical attention on his 6th day of life, presented with intermittent apneic episodes noted on his 4th day of life. A thorough history, physical examination, and laboratory work-up was done excluding primary consideration of pulmonary, cardiac metabolic, neurologic disease or injury. All prenatal examination was normal. Empirical antibiotics were given after septic work-up. During hospitalization, patient noted cessation of breathing, episodes of desaturation, recurrent pneumonia and seizure. The diagnosis was breakthrough confirmed by a positive result for pho2xb sequence analysis accompanying mutated alleles with disease severity which strongly suggesting the clinical diagnosis of congenial central hypoventilation syndrome (cchs).   
Conclusion: In conclusion, cchs is an uncommon condition and a life frightening condition if not well understood. Education, long term financial support and proper management are the key in achieving a long-term outcome   patients with cchs may require lifelong ventilator during sleep, but can still be manage and reach good developmental milestones.

Keywords: Congenital central hypoventilation syndrome, PHO2XB
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