[MIM 264 090]

(neonatal progeroid syndrome)

Rare. Autosomal recessive transmission of a mutation of the POLR3A (10q22.3).

Clinical picture:

-        intra- and extrauterine growth delay

-        lipoatrophy (especially at the level of the face and the limbs, sometimes of the trunk) with very apparent subcutaneous veins; sometimes accumulation of fat at the dorsal surface of the sacrum

-        triangular facies, aspect of old man, micrognathia, presence of a few teeth at birth

-        macrocephaly (pseudo-hydrocephalus), rare hair.

-        frequently mental retardation

-        early atheromatosis: hypertriglyceridemia

Cases of subglottic stenosis have been described. Sometimes contracture of the limbs (arthrogryposis phenotype, see this topic)

Anesthetic implications:

ECG and echocardiography; risk of difficult mask ventilation and intubation .

References : 

-        Hermanns H, Lipfert P, Ladda S, Stevens MF.
Propofol infusion syndrome during anaesthesia for scoliosis surgery in an adolescent with neonatal progeroid syndrome.
Acta Anaesthesiol Scand  2005; 50: 393-4.

-        Pandey M, Gupta N, Kabra M, Kumar A, Datta V, Saili A.
Wiedemann-Rautenstrauch syndrome: first Indian case.
Indian J Pediatr 2011; 78: 1552-5.

-        Sahay N, Bhalotra A, Saini G, Dhanda A.
Anesthesia in an aging infant: neonatal progeroid syndrome.
A&A Case reports 2015; 5 : 173-5.

Updated: October 2019