Septo-optic dysplasia: a case report.

Septo-optic dysplasia also referred to as de Morsier syndrome and is a disorder of early brain development. Three characteristic features are under development (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain (such as absence of septum pellucidum and corpus callosum dysgenesis) and pituitary hypoplasia. CASE REPORT Female, born at 40 weeks of gestation, with a weight of 2.8 kg after a normal pregnancy and labor. She was the first child of nonconsanguineous parents. The mother was 24years-old at delivery and denied exposure to alcohol or drugs. The infant had an uncomplicated course in hospital. She was vaccinated appropriately for her age. Her developmental milestones are normal for age. She was referred to our hospital at the age of four months due to complaints of three episodes of seizures. Neurological examination showed revealed decreased tone in limbs and dilated non reactive pupils. Visual evoked response was abnormal. Endocrinological and hepatic function tests were ruled but did not show any abnormalities. Genetic tests (for Hesx1 gene) were not performed in this case. There was no history of congenital anomalies in the family. MRI was done for a detailed NeuroRadiological Investigation. Magnetic resonance imaging (MRI) showed absent septum pellucidum with closed-lip schizencephaly and dysplastic gray matter along the cortical surface, hypoplastic optic chiasm, corpus callosal dysgenesis, diffuse cerebral atrophy and acute infarct in left high parietal lobe. Axial T1 weighted MRI showing complete absence of septum pellucidum. www.jmscr.igmpublication.org Impact Factor 3.79 Index Copernicus Value: 5.88 ISSN (e)-2347-176x ISSN (p) 2455-0450 DOI: http://dx.doi.org/10.18535/jmscr/v4i02.65