What is Absence of the Septum Pellucidum?
Absence of the septum pellucidum (ASP) is a rare disorder characterized by abnormal development of a thin membrane located at the midline of the brain. The disorder usually occurs with other cranial abnormalities. Individuals with ASP may experience vision impairment or blindness. They may also have coordination problems and hormone deficiencies that result in short stature. Intelligence is usually affected and learning disabilities are common. The disorder usually manifests early in life, often as a consequence of discovering other abnormalities. Symptoms include involuntary eye movements, a wasting of a part or parts of the body, and short stature. Seizures and inappropriate behavior may also occur. The cause of ASP is currently unknown.
Is there any treatment?
Treatment of ASP is symptomatic and supportive. Pituitary hormones may improve growth. Drugs developed to treat epilepsy may be useful.
What is the prognosis?
The prognosis of ASP varies depending on the severity of co-occurring abnormalities. Many cranial abnormalities are life threatening, but alone ASP is not a life-threatening disorder.
What research is being done?
The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, offers hope for new means to treat and prevent developmental brain disorders, including ASP.
Organizations
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
askus@marchofdimes.com
http://www.marchofdimes.com
Tel: 914-428-7100 888-MODIMES (663-4637)
Fax: 914-428-8203
