Couple from Israel searching information about Pilarowski-Bjornsson syndrome and seizures
Geplaatst: 19 mar 2022, 12:32
We are male couple from Israel who brought to the world, two years and eight months ago, through a surrogacy process, a lovely beautiful child.
Unfortunately, at the age of seven months, we discovered that he is suffering from developmental delay and Hypotonia.
We immediately began supportive care, all different kind of tests and among them more genetic screening. All our tests as well as the genetic one (whole exsome) didn’t find anything.
Since then Karmi has progressed slowly but has shown improvement in all areas. About three months ago, clusters of disconnections (which appear after waking up from sleep) began to appear. From then until today the clusters appear once or twice a day and sometimes even more, Their length is between 5 minutes to 20 minutes.
He is being treated with medication (Briviact and Rivotril) which would have seemed to balance him but after two days the seizures returned). We also started a ketogenic diet (we are in her first month).
A week ago we got our last genetic test result (whole genome) and found out that he has Pilarowski Bjornsson syndrome.
We would be really happy and greatful to talk with other families with the same situation and exchange and get more information.
The following variant was found:
Gene Position Nucleotide Amino Acid GnomAD dbSNP Zygosity ACMG classification
CHD1 5:98204879 c.4210G>A p.Glu1404Lys 0 - Heterozygous VOUS
The CHD1 gene is a known cause of Pilarowski-Bjornsson syndrome (PubMed: 28866611). The
variant that was found in this gene is rare (no other carrier was found in gnomAD and
Hadassome). It is situated in an evolutionary conserved position (GERP=4.73).
Unfortunately, at the age of seven months, we discovered that he is suffering from developmental delay and Hypotonia.
We immediately began supportive care, all different kind of tests and among them more genetic screening. All our tests as well as the genetic one (whole exsome) didn’t find anything.
Since then Karmi has progressed slowly but has shown improvement in all areas. About three months ago, clusters of disconnections (which appear after waking up from sleep) began to appear. From then until today the clusters appear once or twice a day and sometimes even more, Their length is between 5 minutes to 20 minutes.
He is being treated with medication (Briviact and Rivotril) which would have seemed to balance him but after two days the seizures returned). We also started a ketogenic diet (we are in her first month).
A week ago we got our last genetic test result (whole genome) and found out that he has Pilarowski Bjornsson syndrome.
We would be really happy and greatful to talk with other families with the same situation and exchange and get more information.
The following variant was found:
Gene Position Nucleotide Amino Acid GnomAD dbSNP Zygosity ACMG classification
CHD1 5:98204879 c.4210G>A p.Glu1404Lys 0 - Heterozygous VOUS
The CHD1 gene is a known cause of Pilarowski-Bjornsson syndrome (PubMed: 28866611). The
variant that was found in this gene is rare (no other carrier was found in gnomAD and
Hadassome). It is situated in an evolutionary conserved position (GERP=4.73).