[MIM 214 900]

Prevalence < 1/106, more common in Norway. Autosomal recessive transmission of a mutation of a yet unidentified gene on 15q. Syndromic form of congenital lymphedema that combines:

-        lymphedema (mainly localized to the lower limbs)  with hypoplasia of lymphatic vessels

-        neonatal cholestasis with hepatomegaly, that may spontaneously regress, become intermittent or evolve towards cirrhosis (25%) in childhood; there is often a deficiency in ADEK vitamins and growth delay.

 Anesthetic implications: 

check hepatic function and hemostasis (INR); avoid any trauma to the affected limb

References:

•        Vignes S, Vidal F, Arrault M, Boccara O.
  Les lymphoedèmes primaires de l’enfant.
  Arch Pédiatr 2017; 24: 766-76

Updated: August 2017