Wednesday, Nov 26, 2014 | 01:18 PM

Madisons Foundation - Moms And Dads In Search Of Needed Support

De Morsier Syndrome
Monday, 06 September 2004
Sunday, 28 November 2004
Septo-Optic Dysplasia, SOD

What

De Morsier syndrome is an extremely rare developmental disability that can become apparent in infancy, childhood or even as late as adolescence. It is characterized by vision problems that are due to the faulty development of some of the eye structures and nerves, low levels of certain hormones and abnormalities of some brain structures. Abnormalities associated with this syndrome may be structural, functional or both. The hormonal problems associated with this condition are due to dysfunction of the hypothalamus and pituitary. The hypothalamus is the part of the brain that controls many of the regulatory functions of the body; such as body temperature, heart and breathing rates and blood pressure. It also sends signals to the pituitary gland, which is responsible for releasing many hormones. Though some children with this condition have normal intelligence, many other children exhibit developmental delays and a range of learning problems.

Who

Females and males are equally affected by De Morsier syndrome. There are only about 25 cases reported in the medical literature, so it is a very rare disorder.

Signs and Symptoms

1. Optic Nerve Hypoplasia (ONH): Fewer number of nerve fibers leading from the eye to the brain, resulting in vision problems 2. Involuntary eye movements due to the inability of the eye to focus (nystagmus) 3. Deviation of the eyes with respect to each other (strabismus) 4. Absent septum pellucidum (membrane that separates the lateral ventricles, or fluid-filled cavities, in the brain) 5. Low muscle tone which gives the appearance of floppiness (hypotonia) 6. Hormonal abnormalities: short stature due to growth hormone deficiency; weight problems and hair loss due to thyroid hormone deficiency; fluctuations in blood sugar and heart rate due to adrenocorticotropic hormone (ACTH) deficiency; disruption of water balance due to anti-diuretic hormone (ADH) deficiency; and problems with sexual development. 7. Seizures 8. Intellectual problems and psychomotor retardation (delay of functions requiring motor and mental coordination)

Possible Causes

The cause of De Morsier syndrome is not currently known. It is thought that both genetic and environmental factors are responsible for the error in embryonic development. Some researchers think that De Morsier syndrome results from reduced blood supply or oxygen delivery to the front portion of the brain during a critical time in development. Others feel that mild pituitary underdevelopment is the result of a genetic change.

Diagnosis

This syndrome is usually diagnosed based on the presence of three features: optic nerve hypoplasia, pituitary dysfunction and absence of the septum pellucidum (and, sometimes, corpus callosum as well). An eye exam that includes visual field testing is usually sufficient for diagnosing the optic nerve hypoplasia. Imaging studies, such as CT scan and MRI, can be used to evaluate for any abnormalities of the midline structures of the brain. Blood tests that measure various hormone levels can be used to diagnose any endocrine problem. Electroencephalogram (EEG) may be done to record brain activity and evaluate for seizures.

Treatment

Various treatments are available to correct the symptoms of De Morsier syndrome. Replacement hormones are available for all the hormones associated with the pituitary gland, either in pill or injection form. People who have been diagnosed with optic nerve hypoplasia should be under consistent monitoring for hormone levels, as hormonal changes can show up later in life. Surgery may be helpful for some eye problems, however visual impairment related to optic nerve hypoplasia cannot be corrected. Visual and occupational therapy may be useful to help an affect child compensate for any vision loss. Educational specialists can also be helpful in assessing intellectual function or degree of learning problems. They can also provide strategies to best cope with and overcome any learning problem.

Prognosis

As of yet, there is no cure for De Morsier syndrome. If hormonal deficiencies are identified early and are properly corrected, some of the symptoms can be prevented. With the supportive treatments that are currently available, children with this condition can live happily well into adulthood.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Magic Foundation
Site provides information about the condition, and has a networking service for parents.

Focus Families
This site offers information, personal stories and support to parents of children with SOD. There is a newsletter and a discussion board as well.

Philip Rance II Foundation
The foundation has a free quarterly SOD newsletter.

Google Search for De Morsier Syndrome

References and Sources

Septo-Optic Dysplasia www2.umdnj.edu/forumweb/SOD.htm Septo-Optic Dysplasia / de Morsier syndrome www.magicfoundation.org/divisions/sod.htm