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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).
Absence of the septum pellucidum occurs in septo-optic dysplasia, a rare developmental disorder usually characterized by abnormal development of the optic disk and pituitary deficiencies. [6] Symptoms of septo-optic dysplasia are highly variable and may include vision difficulties, low muscle tone, hormonal problems, seizures, intellectual ...
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 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 ...
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 told us as soon as they gave us the diagnosis that pretty much the only course of treatment would be to get a hemispherectomy, which is a surgery to remove the left side of the brain ...
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 ...
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.