[MIM 616 211]

Acronym for WWOX-Related Epileptic Encephalopathy

(DEE28, acronym for Developmental and Epileptic Encephalopathy 28)

Unknown incidence, very rare. Autosomal recessive transmission of a mutation of the WWOX gene (16q23.1-q23.2). This gene (WWdomain-containing oxydoreductase) is a tumor suppressor; some mutations can lead to many cancers (lung, osteosarcoma) but also partial 46XY gonadal dysgenesis, spinocerebellar ataxia or epileptogenic encephalopathy.

Clinical presentation:

-        significant developmental delay: lack of language, no acquisition of sitting position (100 %)

-        daily seizures from the first weeks of life (100 %)

-        axial hypotonia (75 %) with hypertonia of the limbs (83 %)

-        feeding difficulties

-        respiratory problems: frequent infections, inhalation pneumonia, irregular breathing

-        facial dysmorphism: short neck, hypotonic facies, round face with full cheeks

-        scoliosis or kyphosis (65 %)

-        microcephaly (30 %)

-        MRI: brain abnormalities (80 %): hypoplasia of the corpus callosum, progressive cerebral atrophy

-        premature death: before 3 years of age in 40 % of cases

Anesthetic implications:

treatment-resistant epilepsy

References :

-        Piard J, Hawkes L, Milh M, Villard L, Borgatti R et al.
The phenotypic spectrum of WWOX-relard disorders: 20 additional cases of WOREE syndrome and review oft he literature.
Genetics in Medicine 2019; 21: 1308-18

Updated: December 2021