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.