[MIM 615-547]

Prevalence < 1.106. Autosomal dominant transmission of a mutation  of the MAGEL2 (15q11.2) gene. The mutation is pathogenic only is the mutation is present on the allel of paternal origin.

The clinical presentation is similar to Prader-Willi syndrome (see this term).

-        neonatal hypotonia, associated in early childhood, with feeding difficulties

-         psychomotor and intellectual retardation,

-          behavioral and dietary problems (hyperphagia and obesity in adolescence),

-        facial dysmorphism of varying importance

The following features are specific:

-        arthrogryposis at birth

-        risk of neurological decompensation (clinical picture of encephalopathy) after a febrile episode

-        autistic behavior disorders

-        hypochromia

The severity of the disease is highly variable: some patients die in utero (fetal akinesia), whereas others can live with moderate disability.

Anesthetic implications:

probably similar to Prader-Willi syndrome: hypotonia in infancy, later obesity, mental retardation

Références:

Update : May 2020