Absent Septum Pellucidum - Porencephaly

What is Absent Septum Pellucidum - Porencephaly?

Absent Septum Pellucidum - Porencephaly is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Aicardi and Goutieres (1981) described four unrelated children with absence of the septum pellucidum, porencephaly and mental retardation. As would be expected, there was a variety of neurological abnormalities including hemiplegia or diplegia, ocular motor palsy and seizures. Several similar cases from the literature were reviewed.
Bordarier et al., (1991) reported a female infant with this combination where the mother had been given several injections of benzol during pregnancy in an attempt to induce an abortion.
Hosley et al., (1992) reported two maternal half-sibs with schizencephaly and Tilton et al., (1988) reported similarly affected sibs. There may be overlap with the condition reported by Aicardi and Goutieres as schizencephaly has been reported with absence of the septum pellucidum and also hypoplasia of the optic nerves (Bird and Gilles, 1987; Marchal et al., 1989).

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* This information is courtesy of the L M D.

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What gene changes cause Absent Septum Pellucidum - Porencephaly?

The syndrome is inherited in the following inheritance pattern/s:

Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Absent Septum Pellucidum - Porencephaly?

The typical symptoms of the syndrome are:

How does someone get tested for Absent Septum Pellucidum - Porencephaly?

The initial testing for Absent Septum Pellucidum - Porencephaly can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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