Absence of the Septum Pellucidum

What is Absence of the Septum Pellucidum?

Absence of the Septum Pellucidum is a rare structural disorder of the brain. It can be congenital, meaning you are born with it, or it may be caused by fluid build up in the brain. In this disorder,  the thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain.

In children where this membrane is absent, the effects can be very dramatic involving both behavior and intelligence development. The neurodevelopmental process is altered. In some cases seizures can occur.

What are the symptoms of Absence of the Septum Pellucidum?

Absence of the septum pellucidum symptoms usually begin during childhood, but a diagnosis can also be made before birth. Symptoms can include:

• Learning disabilities
• Seizures
• Behavioral changes
• Short stature
• High BMI (Body Mass Index)
• Vision loss
• Dilated pupils in light
• Hormonal problems
• Jaundice
• Low muscle tone

The absent membrane, septum pellucidum, is a general barometer for the body, communicating to the rest of the body, the status of the body. An example may be whether or not the body has received enough sleep or food. The absence of the septum pellucidum may cause an individual to feel hungry even when they have just finished eating. The patient may be tired even when they have had adequate rest. What causes Absence of the Septum Pellucidum? There are multiple causes for Absence of the Septum Pellucidum. First of all, in some cases it may be congenital and present at birth. In still other cases, a patient my be born with or develop fluid on the brain. The result of this fluid on the brain, if treatment is not provided or delayed is that it can result in the disintegration of the septum pellucidum.

How is Absence of the Septum Pellucidum diagnosed?

Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI.

What are the treatments for Absence of the Septum Pellucidum?

Generally absence of the septum pellucidum is not an isolated disorder, but is usually associated with other conditions such as septo-optic dysplasia. Septo-optic dysplasia creates abnormalities in both the pituitary glands and the optic nerve.

Where can I find out more about Absence of the Septum Pellucidum?

• NIH
• Check Orphan
• March of Dimes