Prevalence: < 1.106. Mutation or deletion of the PURA gene (5q31.2) coding for the pur-alpha protein (purin rich element binding protein A).  This protein is present in all tissues. It plays an important role in the replication and transcription of DNA, in the transport of mRNA to its translation sites, as well as in the proliferation of the neurons and the maturation of the dendrites during the cerebral development.

Clinical presentation:

-        seizures

-        hypotonia, swallowing disorders

-        central and obstructive apnea

-        hypersomnolence

-        visual problems

-        delay or lack of speech

-         instability of the body temperature

-        frequent and persistent hiccups

-        dislocation of the hip; scoliosis

NB: this deletion is acquired and frequently found in the bone marrow in some myelodysplastic syndromes.

Anesthetic implications:

risk of airway obstruction, apnea or aspiration during induction and recovery of anesthesia; prevention of hypothermia; epilepsy

References : 

Updated: August 2019