[MIM 614 038]

Very rare. Syndromic form of congenital lymphedema. Autosomal dominant transmission of a mutation of the GATA2 gene (3q21.3), resulting in:

-        uni - or bilateral lymphedema the onset of which is variable: childhood, adolescence

-        perceptive deafness

-        primitive immune deficit with neutropenia, lymphopenia, decline in the number of dendritic cells, monocytes, B lymphocytes and Natural Killer cells. This results in increased sensitivity to infections including atypical Mycobacteria, herpes virus and papillomavirus: these infections appear as early as the 2nd or 3rd decade.

-        myelodysplasia with a high risk of acute myeloid leukemia; a few cases of pancytopenia

Anesthetic implications: 

check the blood cells formula; strict aseptic rules; avoid any trauma to the involved limb

References:

•        Vignes S, Vidal F, Arrault M, Boccara O.
  Les lymphoedèmes primaires de l’enfant.
  Arch Pédiatr 2017; 24: 766-76
•        Zawawi F, Sokolov M, Mawby T, Gordon KA et al.
  Emberger syndrome: a rare association with hearing loss.
  Int J Pediatr Otorhinolaryngol 2018; 108: 82-4.

Updated: April 2018