Introduction:
Rett syndrome (RS) is a severe neurogenetic syndrome, affecting one baby every 10.000 live-born, almost exclusively female. Its congenital variant of Rett syndrome (CRS) accounts for just 5-7% of all cases, and the clinical picture is characterized by severe hypotonia, often present at birth, and neurodevelopmental delay since the very firsts few months. Classic RS leads to remarkably breathing instability, usually even more pronounced during wakefulness. We report a 20-month-old female affected by a congenital variant of Rett syndrome, how showed central apneas, periodic breathing, and persistent hypercapnia only during sleep time. Such findings were never reported before in a child affected by Rett syndrome. We present ventilatory and clinical management of this unique case.