Septo-optic Dysplasia – Omitted Interdisciplinary Clinic Entity: Report on Three Patients
Authors:
K. Podobová 1*; H. Urbánková 2*; S. Kriššáková 3; M. Kantorová 4; M. Šmoldas 5; M. Pura 2
Authors place of work:
títo autori prispeli k práci rovnocenne
*; Očné oddelenie, Ústredná vojenská nemocnica, Ružomberok, Slovensko, vedúci prim. MUDr. Ján Čuvala, Ph. D.
1; Endokrinologické oddelenie, Národný endokrinologický a diabetologický ústav, Ľubochňa, Slovensko, vedúci prim. MUDr. Peter Vaňuga, Ph. D.
2; Pracovisko magnetickej rezonancie, Medicínske centrum NovaMed, Banská Bystrica, Slovensko, vedúci prim. MUDr. Ľubomír Miština, CSc.
3; Laboratórium evokovaných potenciálov, Neurologická klinika MFN a JLF UK, Martin, Slovensko, prednosta doc. MUDr. Egon Kurča, Ph. D.
4; Detské oddelenie, Národný endokrinologický a diabetologický ústav, Ľubochňa, Slovensko, vedúci prim. MUDr. Eva Mendelová
5
Published in the journal:
Čes. a slov. Oftal., 65, 2009, No. 2, p. 59-63
Summary
On example of three patients with septo-optic dysplasia the authors present a rare clinical entity involving combined disturbances of endocrine and neurologic systems and variable expressed clinical triad: 1) pituitary aplasia/dysplasia with pituitary hormones deficiency, 2) developmental disturbance of the middle-brain structures (corpus callosum and septum pellucidum), and 3) dysplastic changes of the optic nerve. The knowledge about components belonging to the competence of other specialists and awareness of consequences of untreated hypopituitarism, are imperatives for interdisciplinary cooperation of ophthalmologist, neurologist, radiologist, and endocrinologist. Moreover, they predict early initiation of the adequate and often vital therapy. Molecular-genetic studies in patients with septo-optic dysplasia represent a way to better knowledge about early stages of the pituitary gland and brain development.
Key words:
septo-optic dysplasia, hypopituitarism, combined pituitary hormone deficiency, optic nerve hypoplasia, gene HESX1
Zdroje
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Štítky
OphthalmologyČlánok vyšiel v časopise
Czech and Slovak Ophthalmology
2009 Číslo 2
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