NEONATOLOGY EXPERT FORUM
Possible PCD?

Possible PCD?

My nephew was born yesterday with his organs reversed, all I know so far is his heart is reversed and his intenstines. He doesn't have a splean.  Our family is very confused and we do not understand how this happened.
I have spoken to the obgyn however still waiting on the results becasue ge was moved to another hospital. With out knowing specific details can you tell me the general diagnosis for PCD? I read an article on PCD becasue it pulled up under reversed organs.  However I do not see how PCD or the reversed organs are related to a missing slpean? Are the only causes for this genetic? Could any medications cause this? Also the baby has additional stubs where the fingers are.

Thanks
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Primary ciliary dyskinesia (PCD), also known as immotile cilia or Kartagener's syndrome, is a primary problem in the structure and function of cilia that results in impaired clearance of mucous and recurrent respiratory infections, as well as chronic sinusitis.  It is often associated with situs inversus, or reversed organs, and is genetic in origin with an autosomal recessive pattern.  

However, what you are describing is more accurately referred to as Heterotaxy, or Asplenia, syndrome, as there can be a variety of causes and is not necessary related to PCD.  It results from a failure of appropriate development and rotation of the right and left sides, which can result in abnormal positioning of the heart, liver, and intestines.  Asplenia means that no spleen (a left sided organ) can be visualized on imaging studies, and helps to identify the problem with left-sided development in these cases.  

The cause is not known, but is thought to be multifactorial.  It is possible that it could be inherited, as some familial cases have been reported, but no consistent gene abnormalities have been found.  It is also possible that it may involve teratogens (medications causing abnormal fetal development) or in utero infection, but no obvious causes have been identified.
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