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Absence of septum pellucidum

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The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain.

CavumSeptumPellucidumDiagram.jpg

Cause

  • Absence of the septum pellucidum can be caused by multiple factors depending on the underlying condition.
  • Some people are born with or develop hydrocephalus, or a fluid buildup in the brain.
  • If this condition goes untreated, the excess fluid can disintegrate the septum pellucidum.
  • Absence of the septum pellucidum can also be the result of a genetic condition that is present in a baby at birth.
  • Additionally, the septum pellucidum is connected to another brain structure called the corpus callosum, which is responsible for sending information between the two halves of the brain.
  • Some people are born with a missing corpus callosum.
  • People with a missing corpus callosum will also have a missing septum pellucidum.

Symptoms

  • The symptoms of absence of the septum pellucidum may vary, and it may be difficult to determine which symptoms are due to the underlying disorder and which ones are due to absence of the septum pellucidum.
  • Symptoms that are common among people with absence of the septum pellucidum include learning disabilities, seizures, and behavioral changes.
  • The septum pellucidum provides information to the rest of the body about how the body is doing.
  • This information may include whether or not the body has received enough sleep or food, or whether the environment is safe.
  • Therefore, an absence of the septum pellucidum may cause an individual to feel hungry even when they are not or tired when they have had enough sleep.
  • Some people with absence of the septum pellucidum do not grow very tall or have a high body mass index (BMI).
  • This means that they have a higher weight than is typical for their height.

Diagnosis

  • Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI.
  • Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally).
  • If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made.

Treatment

Absence of the SP alone is not a disorder but is instead a characteristic noted in children with septo-optic dysplasia or other developmental anomalies.

Prognosis

  • The long-term outlook or prognosis for individuals affected by absence of the septum pellucidum varies depending on the underlying cause of the condition. Some of the symptoms of absence of the septum pellucidum may be treated.
  • For example, medications can be used to help relieve seizures or treat any behavioral changes.
  • Growth hormone may be prescribed for individuals who have a high body mass index and are short in stature.
  • By itself, absence of the septum pellucidum is not life-threatening.
  • However, the prognosis of certain conditions that cause absence of the septum pellucidum may differ.

NIH genetic and rare disease info

Absence of septum pellucidum is a rare disease.


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