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Septo-optic Dysplasia: Morphological, Ophthalmologic and Endocrine Findings in 11 Patients


Authors: J. Vosáhlo 1;  J. Krásný, SrpA. 2 3;  R. Brunnerová 2;  J. Lebl 1
Authors‘ workplace: Klinika dětí a dorostu 3. LF UK a FN Královské Vinohrady, Praha1 přednosta doc. MUDr. J. Lebl, CSc. Oftalmologická klinika 3. LF UK a FN Královské Vinohrady, Praha2přednosta prof. MUDr. P. Kuchynka, CSc. Radiodiagnostická klinika 3. LF UK a FN Královské V
Published in: Čes-slov Pediat 2003; (5): 287-290.
Category:

Overview

Septo-optic dysplasia (SOD) is a developmental abnormality characterised by optic nerve hypoplasia, brainmalformations and hypothalamic-pituitary deficiencies. Morphological, ophthalmologic and endocrine findingswere studied in 11 children with SOD - 5 males and 6 females. Brain malformations were found in 10 children andincluded aplasia of the septum pellucidum (4), corpus callosum (3) and fornix (1), pituitary abnormalities (9),cortical malformations (4) and some additional findings in single patients. Developmental abnormalities of theoptic nerve were seen in 9 children - unilateral (6) and bilateral (2) optic nerve hypoplasia and dysplastic changes(1). Blindness was present in 2 children bilaterally and in 6 children unilaterally. Nine children suffered fromstrabism and 4 from nystagmus. Endocrine symptoms were present in 9 patients. Most prevalent was growthhormone deficiency (8), followed by central hypothyroidism (7), hypocorticalism (6), hypogonadism (2) anddiabetes insipidus (1). Early diagnosis and interdisciplinary approach are essential in adequate care for childrenwith SOD.

Key words:
septo-optic dysplasia, De Morsier syndrome, optic nerve hypoplasia, growth hormone deficiency

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Labels
Neonatology Paediatrics General practitioner for children and adolescents

Article was published in

Czech-Slovak Pediatrics


2003 Issue 5

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