Absence of the Septum Pellucidum
What is Absence of the Septum Pellucidum?
Absence of the septum pellucidum (ASP) is a rare disorder characterised 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 behaviour 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.
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