[MIM 219 150, 614 438]

Very rare. Autosomal recessive transmission of mutations of the PYCR1 gene (17q25.3) (type B) that codes for pyrroline-5-carboxylate reductase, the ALDH18A1 (10q24.1)  (type A or cutis laxa type 3) but mutation of the ATP6VOA2-CDG gene have been identified in some patients. Those mutations could lead to a fragmentation of mitochondrias and exacerbated apoptosis in case of oxidative stress.

Association of:

-         intrauterine and later postnatal growth retardation

-        skin hyperlaxity (cutis laxa) with very fragile skin (paper-like)

-         progeroid aspect, 

-         corneal opacities with myopia and cataracts as well as glaucoma

-         facial dysmorphism: downslanting palpebral fissures, broad nose with  anteverted nares, small mouth

-         mental retardation with hyperreflexia and athetoid movements

-         ligamentar hyperlaxity that causes orthopedic deformities (congenital dislocation of the hip, pelvis, hands).

-        progressive dilatation of the aortic arch

Anesthetic implications: 

mental retardation; difficult venous access; thin and fragile skin; difficult mask ventilation and ventilation; low risk of hyperthermia (non-malignant) and intraoperative tachycardia; premature aging ?

References : 

-        Aponte EP, Smith HM, Wanek BJ, Rettke SR. 
Anesthesia considerations for patients with de Barsy syndrome. 
J Clin Anesth 2010 ; 22 :499-504

-        Warner LL, Olsen DA, Smith HM.
Clinical implications of de Barsy syndrome.
Pediatr Anesth 2018; 28: 59-62. 

Updated: December 2017