(MIM 251 290)

(Baraitser-Reardon syndrome, Baraitser-Bett-Piesovicz syndrome)

Very rare. Severe embryofetopathy transmitted on an autosomal recessive mode. Infants whose clinical picture evokes the TORCH (spasticity, microcephaly, seizures, intracerebral calcifications) syndrome but where no causal infectious cause is found.

There are different clinical presentations:

-        leukoencephalopathy, calcifications (grey nuclei, cerebellum, white substance) and cerebral cysts

-        polymicrogyria with cerebral calcifications in bands: due to a mutation of the OCLN gene that codes for occludine, one of the proteins of the tight intercellular junctions; hepatosplenomegaly, thrombopenia

-        cystic leukoencephalopathy without megalencephaly: result of mutations that cause a loss of function of the T2 ribonuclease involved in angiogenesis.

The neonatal form of the Aicardi-Gouttieres syndrome (severe cerebral atrophy with calcifications of the basal ganglia and periventricular white matter abnormalities) presents a very similar symptomatology.

Anesthetic implications:

mental retardation, refractory seizures, management of a polyhandicapped child; check hepatic function.

References : 

-         Thibault M, Leyfet J, Tournier-Lasserve E, Crow Y-J et al. 
Syndromes génétiques mimant les infections congénitales : à propos de deux cas. 
Arch Pédiatr 2011 ; 18 : 1297-1301.

-         Vivarelli R, Grosso S, Cioni M et al. 
Pseudo_TORCH syndrome or Baraister-Reardon syndrome : diagnostic criteria. 
Brain Dev 2011; 23: 18-23.

Updated: December 2017