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+Girl aged 3 years and 8 months. Gestational diabetes and mother Rh - grade A, gestation of 38 weeks and normal delivery. Normal female karyotype 46 XX.
+Prenatal ultrasound diagnosis of this girl shows agenesis of the corpus callosum and multicystic dysplastic right kidney. In the central nervous system she has a choroid plexus cyst and a cyst in the deep interhemispheric region. On MRI examination, no abnormalities of neuronal migration are detected. Electroencephalographic (EEG) recordings were normal. Cognitive studies show a normal psychomotor development quotient.
+Fundus examination showed a practically normal appearance of the right fundus, with a normal optic papilla, two small hypopigmented chorioretinal lacunae and absence of macular involvement. However, we observed in the left fundus a colobomatous malformation of the optic nerve and a larger number of chorioretinal lacunae without macular involvement.
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