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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 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]
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.
Central neurocytoma (CNC) is an extremely rare, ordinarily benign intraventricular brain tumour that typically forms from the neuronal cells of the septum pellucidum. [1] The majority of central neurocytomas grow inwards into the ventricular system forming interventricular neurocytomas. This leads to two primary symptoms of CNCs, blurred vision ...
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Rhombencephalosynapsis is an anomaly characterized by the absence or severe dysgenesis of the cerebellar vermis with fusion of the cerebellar hemispheres, peduncles, and dentate nuclei. Diagnostic features include fusion of the midbrain colliculi , hydrocephalus , absence of the corpus callosum other midline structural brain malformations.
Separating the anterior horns of the lateral ventricles is the septum pellucidum: a thin, triangular, vertical membrane which runs as a sheet from the corpus callosum down to the fornix. During the third month of fetal development, a space forms between two septal laminae, known as the cave of septum pellucidum (CSP), which is a marker for ...