Proud syndrome
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(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