[MIM 612 714]

(Shteher syndrome)

Very rare. Homozygous mutation in the COX4I2 gene which codes for a subunit of cytochrome C oxidase of the mitochondrial respiratory chain. 

Association of:

-         exocrine pancreatic insufficiency

-         dyserythropoietic anemia that frequently improves with age

-         hyperostosis localized to the skull

Anesthetic implications: 

check complete blood count and coagulation (ADEK vitamins deficiency?)

References : 

•    Shteyer E, Saasa A, Shaag A, Al-Hijawi F, Kidess R et al. 
  Exocrine pancreatic insufficiency, dyserythropoietic anemia and calvarial synostosis are caused by a mutation in the COX4I2 gene. 
  Am J Hum Genet 2009; 84: 412-7.

Updated: June 2019