Physical Address
304 North Cardinal St.
Dorchester Center, MA 02124
Septooptic Dysplasia
Introduction
Septooptic dysplasia (SOD), also known as de Morsier syndrome, is a rare heterogeneous disorder. It is characterized by optic nerve hypoplasia and midline forebrain abnormalities, such as agenesis of the corpus callosum, absence of the cavum septi pellucidi, and pituitary hypoplasia with consequent panhypopituitarism. It has been proposed that the terms SOD and de Morsier syndrome should be abandoned, as they are not independent entities.
Disease
Definition
Diagnosis of SOD requires the presence of any two of the classic features: (1) optic nerve hypoplasia, (2) midline forebrain abnormalities, or (3) pituitary hypoplasia.
Prevalence and Epidemiology
The reported incidence is 1 : 10,000 live births, equally prevalent in males and females. Some studies suggest SOD is more common in younger mothers and primigravidas. It has also been shown to occur more frequently in areas with high population density, inner-city areas with high rates of unemployment, and areas with high rates of teenage pregnancy.
Etiology and Pathophysiology
The etiology of SOD is uncertain. It may be the result of mutations in the homeobox gene HESX1, or a possible autosomal recessive inheritance. Sporadic cases are thought to be the result of vascular disruption, exposure to teratogens such as valproic acid and ethanol, viral infections such as cytomegalovirus, or maternal drug abuse with cocaine and amphetamines.
You're Reading a Preview
Become a Clinical Tree membership for Full access and enjoy Unlimited articles
If you are a member. Log in here
