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Neurochristopathy in the differential diagnosis of newborn's apnea: case report

OBJECTIVE: to include neurocristopathy on the etiological workup of neonatal apneas and discuss the importance of polysomnography in this diagnosis. METHOD: case report and critical review of the literature. Results: we report on a newborn that presented respiratory failure in the first hours of life associated to abdominal distention. Continuous ventilatory support was necessary, and the respiratory distress increased during sleep. After polysomnographic confirmation of hypoventilation the newborn was submitted to neuroradiolgic tests and colon byopsy, positive to Hirschsprung's disease. CONCLUSION: Neurocristopathy syndrome can have many different clinical expression, and sometimes the syndrome can be misdiagnosed. Polysomnography confirms central hypoventilation. This diagnosis should be considered in the newborn's persistent apnea workup.

congenital central hypoventilation syndrome; Hirschsprung's disease; polysomnography; newborn; apnea


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