Abstract
Breathing disturbances are often a major clinical concern during
wakefulness of classic form of Rett syndrome, but data for atypical
forms are lacking. We report the case of a 20-month-old female affected
by the congenital variant of Rett syndrome, that is characterized by
severe hypotonia and neurodevelopment impairment. She presented
hypoventilation, persistent periodic breathing and sustained
desaturation during sleep time, without obstructive nor central events;
pulse oximetry and capnography during wakefulness were strictly normal.
To the best of our knowledge, this is the first case of Rett syndrome
presenting hypoventilation. Hypotonia may play a major role in the
genesis of hypoventilation and hypoxemia in our patient. Non-invasive
ventilation led to quality-of-life improvements. Thus, we suggest
screening patients with congenital Rett variant through transcutaneous
bedtime carbon dioxide and oxygen monitoring. Moreover, in our case,
assisted control mode was a breakthrough to achieve adequate
ventilation.