A girl of 3 years and 8 months old.
Gestational diabetes and Rh-grade A mother, 38 weeks gestation and normal delivery.
Female normal karyotype 46 XX.
The prenatal ultrasound diagnosis of this girl shows agenesis of the corpus callosum and multicystic dysplastic right kidney.
The central nervous system presents a choroid plexus cyst and a cyst in the deep interspheric region.
Nuclear magnetic resonance imaging does not detect neuronal migration abnormalities.
Electroencephalogram (EEG) was normal.
Cognitive studies show a normal psychomotor development ratio.
Examination of the eye fundus shows a practically normal appearance of the right eye fundus, with a normal optic papilla, two small hypopigmented chorioretinal lacunae and absence of macular involvement.
However, we observed in the left eye fundus a colobomatous plaque of the optic nerve and chorioretinal lacunae in greater number without macular involvement.
