SEPTO-OPTIC DYSPLASIA – A CLINICAL SPECTRUM DEFINITION IN 54 CASES

Objectives: The purpose of this study is to define the prevalence of Septo-Optic Dysplasia (SOD) in a group of patients with Optic Nerve Hypoplasia (ONH) and to define the clinical spectrum of SOD.

Methods: A retrospective study of 135 patients with ONH was conducted in order to evaluate neurological, endocrinological, ophthalmological and neuroradiological involvement. SOD was defined by the presence of ONH associated with one or both of the following abnormalities: a) CNS Malformations b) Endocrine deficits Three groups were defined: Group 1 (G1): ONH+CNS Malformation; without endocrine deficits. Group 2 (G2): OHN+ endocrine deficits; without CNS Malformation. Group 3 (G3): ONH+CNS Malformation + endocrine deficits. We analyzed neuropsychological aspects and the presence of epilepsy, cerebral palsy and mental retardation. Results: The rate of patients with ONH that suffered SOD was 40% (54/135). Of these patients 48.1% belonged to G1; 16.6% to G2, and 35.2% to G3. Mental retardation was present in 66.6%, autism in 11.1%, epilepsy in 22.2%, Cerebral palsy in 8%, Neonatal hypoglycemia in 27% and SNC malformation in 83%. All epileptic patients associated CNS Malformation.

Conclusion: SOD should be considered in all children with ONH. Endocrinological evaluation allows early diagnosis of hypothalamopituitary dysfunction. The structural anomalies of the CNS were predictive of mental retardation and/or epilepsy.