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Septo-optic dysplasia (SOD), known also as de Morsier syndrome, is a rare congenital malformation syndrome that features a combination of the underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain).
Motor delay is most common (75%) and communication delay is least common (44%). Predictors of significantly delayed development include hypoplasia or agenesis of the corpus callosum and hypothyroidism. The absence of the septum pellucidum does not predict developmental delay. Delays may occur in unilateral (39%) as well as bilateral (78%) cases ...
The septum pellucidum (Latin for "translucent wall") is a thin, triangular, vertical double membrane separating the anterior horns of the left and right lateral ventricles of the brain. It runs as a sheet from the corpus callosum down to the fornix. The septum is not present in the syndrome septo-optic dysplasia.
The both of them exhibited bilateral porencephaly, an underdeveloped cerebellum, an absent vermis, an absent septum pellucidum, and generalized internal malformations, most of which were unique to one another; [6]
They can show the enlargement of ventricle, absence or degeneration of septum pellucidum, pachygyric symptoms, abnormalities in corpus collosum, lissencephaly. [21] Fetal MRI and ultrasound are used as a prenatal diagnostic tool if needed to screen for the disease.
The cave of septum pellucidum (CSP), cavum septi pellucidi, or cavity of septum pellucidum is a slit-like space in the septum pellucidum that is present in fetuses but usually fuses during infancy. The septum pellucidum is a thin, laminated translucent vertical membrane in the midline of the brain separating the anterior horns of the right and ...
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The other two important structures of the midline include the third ventricle and the pineal gland, which are both centrally located and caudal to the septum pellucidum. [6] [7] Identifying the location of these structures on a damaged brain compared to an unaffected brain is another way of categorizing the severity of the midline shift. The ...