SEPTO-OPTIC DYSPLASIA: GENERAL INFORMATION
Septo-Optic Dysplasia, also known as de Morsier’s
Syndrome, is a developmental disability characterized by: 1)
visual impairment, 2) delayed growth, and 3)
learning disability.
It is called “Septo-Optic Dysplasia” because the ventricular septum (a part of the brain) and optic nerves ( responsible for vision) do not form properly in the unborn child. Other parts of the front part of the brain, for example the corpus callosum(cc), do not form completely as well. One of those parts is the “hypothalamus”, which is responsible for many metabolic and regulatory functions of the body. For example, the hypothalamus regulates body temperature, heart rate, breathing rate, and blood pressure.
Thus children and adults with SOD may experience fluctuations of body temperature, as well as abnormalities of heart rate, breathing rate and blood pressure. In addition to these regulatory functions, the hypothalamus also controls the pituitary gland, the “master gland” that controls all hormonal function. Thus children with SOD may not grow normally because of lack of Growth Hormone. Additionally the thyroid and adrenal glands as well as water conservation mechanisms may not work properly because of deficiency of critical pituitary hormones. This may lead to hypoglycemia and inability to respond normally to stress. If severe, these deficiencies may lead to shock and even death.
What causes Septo-optic dysplasia ? No one knows for certain what causes SOD. There is evidence for both genetic and acquired causes. There are reports of SOD occurring in two children from the same family, but this is rare and the vast majority of children with SOD do not have brothers or sisters with the same condition. Some researchers believe that SOD is caused by lack of blood supply or oxygen delivery to the front part of the brain during a critical stage of fetal development.
Is there treatment available? Unfortunately there is currently no treatment for the underlying brain disorder that is responsible for the symptoms of SOD. However, if SOD is diagnosed early, and pituitary hormone deficiencies are identified, growth retardation and other manifestations of pituitary hormone deficiency (such as symptoms of thyroid and adrenal deficiency) can be prevented. In addition appropriate treatment of the visual problems associated with SOD can be initiated by the family eye doctor.
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For additional information contact Philip B. May Jr. MD by E-Mail at maypb@umdnj.edu