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Introduction. Septo-optic dysplasia (SOD) is the variable combination of signs of dysgenesis of the midline of the brain, hypoplasia of the optic nerves and hypothalamus-pituitary dysfunction, which is sometimes associated with a varied spectrum of malformations of the cerebral cortex. Aims. To describe the natural history and neuroimaging findings in a series of 20 diagnosed patients. Patients and methods. We review the epidemiological, clinical and neuroimaging characteristics of 20 consecutive patients diagnosed with SOD between January 1985 and January 2010. Data obtained from computerised tomography, magnetic resonance imaging of the head, electroencephalogram, visual evoked potentials, ophthalmological evaluation, karyotyping and endocrinological studies were analysed. In seven patients, a study of the gene Homeobox HESX1 was conducted. Results. Pathological antecedents in the first three months of gestation were presented by 60% of the cases, with normal results in the foetal ultrasound scans. Clinically, the most striking features were visual manifestations (85%), endocrine disorders (50%), mental retardation (60%) and epileptic seizures (55%). Fifty-five per cent were associated to abnormal neuronal migration. In 45%, SOD was the only finding in the neuroimaging scans. Karyotyping was performed in all cases, the results being normal. Gene HESX1 was positive in two of the seven cases studied (both with isolated SOD). None of those with mutation in gene HESX1 presented familial consanguinity. No gene study was conducted with the parents. Conclusions. SOD must be classified as a heterogeneous malformation syndrome, which is associated to multiple brain, ocular, endocrine and systemic anomalies. The most severe forms are associated with abnormal neuronal migration and cortical organisation.

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