[Septo-optic dysplasia--omitted interdisciplinary clinic entity: report on three patients].
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.
Podobová
K
K
Ocné oddelenie, Ustredná vojenská nemocnica, Ruzomberok, Slovensko.
Urbánková
H
H
Krissáková
S
S
Kantorová
M
M
Smoldas
M
M
Pura
M
M
D000328:Adult; D005260:Female; D006801:Humans; D025962:Septo-Optic Dysplasia / Q000175:diagnosis*; D055815:Young Adult