Auxological, ophthalmological, neurological and MRI findings in 25 Austrian patients with septo-optic dysplasia (SOD). Preliminary data.
Septo-optic dysplasia (SOD) comprises ophthalmological, endocrinological and neurological disorders resulting from varying degrees of midline malformation of the forebrain like visual impairment by optic nerve hypoplasia, endocrine deficits due to hypothalamic and/or pituitary anomalies, and psychomental retardation by associated cortical malformation. MRI shows aplasia/hypoplasia of the septum pellucidum and corpus callosum as a radiological hallmark. For etiology, genetic defects (Hesx1/HESX1 gene) as well as vascular disruption during embryonic brain development are discussed.


OBJECTIVE
To perform detailed analysis of morphological findings and clinical symptoms and to improve care of SOD patients by interdisciplinary management.


METHODS
We investigated 25 patients with a mean age of 5.1 years at diagnosis.


RESULTS
Pituitary insufficiency was present in 11/25 patients, multiple deficits in 6 of them. Bilateral optic nerve hypoplasia was found in 70% of patients, unilateral in 20%. Mild or moderate neurological disorders were observed in the majority of patients (14/20), EEG was usually normal (12/19). Analysis of MRI films revealed very heterogeneous morphological anomalies, ranging from isolated agenesis of the septum pellucidum to multiple malformations, involving the cortex. Malrotation of the hippocampal structures was a common finding.


CONCLUSIONS
We conclude that only interdisciplinary management of SOD patients can ameliorate the exact diagnosis and outcome, depending on early visual or developmental support as well as early diagnosis and substitution of potentially life-threatening endocrine deficits.
Riedl
S W
SW
Department of Pediatrics, University of Vienna, Austria.
Müllner-Eidenböck
A
A
Prayer
D
D
Bernert
G
G
Frisch
H
H
D000015:Abnormalities, Multiple / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001317:Austria; D002648:Child; D002675:Child, Preschool; D003941:Diagnostic Techniques, Ophthalmological; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D010900:Pituitary Diseases / Q000151:congenital; D025962:Septo-Optic Dysplasia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*