Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome.

ABSTRACT:

Background

Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking.

Case presentation

We report the case of a 20-month-old female affected by Rett syndrome with congenital variant-like onset, characterized by severe hypotonia and neurodevelopment impairment. She presented hypoventilation, persistent periodic breathing, and sustained desaturation during sleep, without obstructive or mixed events. Pulse oximetry and capnography during wakefulness were strictly normal. To the best of our knowledge, this is the first case of a patient affected by a congenital variant of Rett syndrome presenting sleep hypercapnia. Hypotonia may play a major role in the genesis of hypove

SUBMITTER: Ghirardo S 

PROVIDER: S-EPMC9450235 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature