Proud syndrome

[MIM 300 004]


(Proud-Levine-Carpenter syndrome, microcephaly-agenesis of the corpus callosum syndrome-genital abnormalities)

Very rare. X-linked recessive transmission of a mutation ofthe ARX gene (Xp21.3). Other mutations in this gene may cause early childhood epileptic lissencephaly or early infantile epileptic encephalopathy (see Ohtahara syndrome, EIEE1)


Clinical presentation

-        agenesis of the corpus callosum

-        mild to severe neurological signs: intellectual deficit, developmental delay, epilepsy, dystonia

-        urogenital abnormalities: hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia.

-        sometimes: skeletal abnormalities (limb contractures, scoliosis), facial dysmorphism (prominent eyebrow arches, synophrys, wide eyes) and optic atrophy.


Anesthetic implications:

mental delay, refractory epilepsy


References :

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Updated: January 2020