A girl of 11 years and 10 months old.
Normal female karyotype, gestation and normal delivery.
Magnetic resonance imaging (MRI) of the brain shows agenesis of the corpus callosum along with extensive anomalies of neuronal migration.
This patient presents epilepsy in childhood, the first episodes of seizures at 2 years of age.
Electroencephalogram (EEG) shows asymmetric hypsarrhythmia.
Funduscopic examination revealed a complete papilla in the eye, peripapillary pigment and areas of hypopigmented chorioretinal lagoons peripatellate vascular arch extending towards the right arcades.
However, there is no macular involvement.
The left eye fundus showed a colobomatous optic disc and small hypopigmented chorioretinal areas.
There are no other malformations at renal or vertebral level.
The patient is characterized by long survival, with a current age of 11 years and 10 months, but with very severe psychomotor retardation.
