The third patient presented the most severe phenotype of our series of Aicardi Syndrome.
Normal term pregnancy, normal delivery, normal female karyotype.
Magnetic resonance imaging of the brain (MRI) is performed at 4 days of age showing a complex colon with agenesis of the corpus callosum, the left frontal lobe dysplastic with nodular subcortical heterotopies in arachnoid cyst.
The patient shows significant impairment in psychomotor development.
An asymmetrical highly disorganized hypsarrhythmia was observed on EEG, clinically presenting seizures refractory to treatment.
The left eye presented an important ophthalmia.
The examination of the right eye fundus showed a right colobomatous optic disc Morning-Glory type, with chorioretinal lacunae in the central retina, affecting the macular area.
The left eye fundus includes a Morning-Glory colobomatous papilla with surrounding chorioretinal lacunae.
At 9 months of age, the patient had a lower bullous retinal detachment in the left eye.
Visual evoked potentials (VEP) are fixed in the right eye and absent in the left eye.
The patient also had left renal agenesis, hemivertebrae and severe scoliosis.
The patient died at 18 months of age.
1.
Results
The first case is the malformation presenting at 3 years and 8 months of age absence of seizures, good visual development, and normal psychomotor development.
In the central nervous system, it is characterized by no cortical or neuronal migration abnormalities.
In the eye it presents small lacunar islets in the bottom of the eye, with macular respect and small coloboma of unilateral optic nerve.
There are no complications such as retinal detachment and is in orthophoria with good visual development.
The second patient had severe psychomotor retardation and severe epilepsy with poor clinical control.
However, it is characterized by good survival, with a current age of 11 years and 10 months.
In the central nervous system, cortical alterations of neuronal migration are observed.
It is benign in the ocular clinic, with small chorioretinal lesions, with macular respect and small coloboma of the unilateral optic nerve.
There are no associated ocular complications, and she is in orthophoria with good visual development.
It is not associated with other renal or vertebral malformations.
The third patient is the most severe case, with refractory epilepsy and profound psychomotor retardation, dying at 18 months of age.
In the cortex presents important anomalies of neuronal migration.
Ocular alterations are severe with pathological VEP, observing in the eye fundus large chorioretinal lagoons with involvement of the macular area, bilateral coloboma of the optic nerve of great size, microphthalmic oment left eye.
It also presents more severe systemic malformations with renal agenesis and multiple vertebral alterations.
