[MIM 601 451]

Very rare, seems more common in Arab populations. Form of cerebral gigantism. Autosomal recessive transmission of a mutation of the PLOD1 gene (on 1p36.3-36.2) which codes for lysyl-hydroxylase, such as in Ehlers-Danlos syndrome type VIA (kyphoscoliotic).

Pre - but especially postnatal excessive growth, prominent forehead, hypotonia with joint laxity, wrist drop, delayed motor development, kyphosis, long tapered fingers and feet in dorsiflexion (contractures), osteopenia, lymphedema, accelerated bone age.

In one case, widening of the spinal canal with possibility of dural ectasies has been reported.

Anesthetic implications:

hypotonia; increased risk of dural breach in case of epidural block ?

References : 

• Al-Gazali LI, Bakalinova D, Varady E, Scorer J, Nork M. 
  Further delineation of Nevo syndrome. 
  J Med Genet 1997; 34: 366-70.

Updated: November 2018