Aagenaes syndrome: Description, Causes and Risk Factors
It is also known as the CLS (cholestasis-lymphedema syndrome). Aagenaes syndrome is characterised by one thing doctors call hypoplasia, in which a tissue or organ is not fully produced. However, it is much better known as underdeveloped cells, triggering a bluish spot that relatively resembles a blueberry. This is wherever the expression “Blueberry Muffin Baby” will come in this problem is characterised by this form of appearance in infants, and as you can envision is disconcerting to the new mother and father. This issue of hypoplasia is strictly acknowledged as one thing that is congenital, meaning that it seems at birth but it doesn't necessarily indicate that it is hereditary.
This syndrome is named after the Norway pediatrician known as Oystein Aagenaes. It is defined as a syndrome in which the lymph vessels are not fully formed. It is a congenital condition. It is autosomal recessive disorder and its genetic cause is unidentified. Some suggest that the chromosome 15 q is involved. As the lymph vessels are involved it is considered to be lymphangiogenic in origin. It is more common in the Norway. It is also found in the Europe and America.
The disease is an inherited one, although the genetic causes are unto this day unknown. It is said that those who typically marry amongst their own (like cousins who marry one another) are at a higher risk of passing on the syndrome. It is said that the gene which causes the syndrome is recessive in nature, and therefore usually becomes dominant when its allele (or same gene) is found.
The 'prognosis' of Aagenaes syndrome usually refers to the likely outcome of Aagenaes syndrome. It causes portal hypertension which may be present at birth but it is recognized after years when it has to produce complications of portal hypertension, especially bleeding esophageal varices.
The condition often shows signs soon after the birth of an infant with the syndrome, and signs such as jaundice (yellowing of the skin) will appear, and then come and go at various times throughout the person's life. During infancy or school age, legs will generally start to show signs of edema or swelling, and could progress as the patient ages.
Diagnosis may be achieved by testing for the cause of the specific symptoms, especially in conjunction with the lymphedema.
As of yet, there is no full means of treatment or a cure for the condition, but doctors help patients by lessening the effects of the various manifestations or signs or complications of the syndrome, like cirrhosis of the liver or lymphedema. Individual cases differ, but symptoms are usually more prominent during infancy, and then come and go in episodes throughout a patient's life.
NOTE: The above information is an educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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