[MIM 300 260, 300 815]

(Lubs-Arena syndrome, X-linked intellectual disability type Lubs, X-linked intellectual disability-hypotonia-intercurrent infections, Xq distal duplication, Trisomy Xq28)

Very rare. Sporadic. The MECP2 gene (Xq28) is the major gene responsible for the phenotype of distal Xq duplications but other contiguous genes may be involved. Other mutations of the MECP2 gene cause Rett syndrome in girls.

Clinical presentation:

-            characteristic facies: premature closure of the fontanels or protrusion of the metopic suture, broad face with full cheeks, epicanthus, large ears, small and open mouth, abnormal ears, pointed nose, abnormal palate with midface hypoplasia, and facial hypotonia

-         major axial hypotonia with spasticity of the lower limbs

-        significant developmental delay (very poor or absent speech)

-        stereotyped gesture

-        epilepsy, often resistant to treatment

-        severe feeding difficulties,

-        small hands and feet, tapered fingers

-        increased susceptibility to infections (IgA and IgG2 deficiency) especially of the lung (chronic aspiration).

-        functional disorders of the digestive tract and dysautonomia are often present in adolescence.

Information: French Association of "MECP2 Gene Duplication Syndrome": http://www.duplicationmecp2.fr/

Anesthetic implications:

risk of difficult mask ventilation and intubation; epilepsy, antibioprophylaxis

References : 

-        Choi Y-L J, Wong T-K M, Ng KKD.
Anesthetic management for a patient with MECP2 duplication syndrome : a case report.
A&A Practice 2020 ; 214 :e01202

Updated: October 2022