[MIM 304 700]

(DDON syndrome)

Rare. Recessive transmission of a mutation of the TIMM8a gene (on Xq22) coding for the DDP1 peptide that plays an important role at the level of the inner membrane of the mitochondria where it is involved in the import of preproteins of nuclear origin.

It is a neurodegenerative disorder the first sign of which is an early  pre-and post-verbal sensorineural hearing loss. Visual disturbances and progressive dystonia appear later in childhood. Behavior disorders, and even psychiatric problems are also possible.

Anesthetic implications:

anesthesia of a deaf or hearing-impaired (cochlear implant) and visually impaired child.

References : 

-         Hawksworth C, Ravury S. 
An audit of anesthesia safety in a pediatric cochlear implantation program. 
Pediatr Anesth 2015; 25: 95-630-5.

Updated: December 2018