Aagenaes syndrome

Aagenaes syndrome: Description, Causes and Risk Factors

Aagenaes syndromeIt 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.

Symptoms

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.

Other symptoms include: cirrhosis of the liver; an enlarged liver; inadequate bile secretion and underdeveloped lymph vessels among some others.

Diagnosis

Diagnosis may be achieved by testing for the cause of the specific symptoms, especially in conjunction with the lymphedema.

Treatment

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.

0 Comments

Submit a Comment

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.

Cart Preview

Regular Use of Probiotics May Cut the Need for Antibiotics

Regular Use of Probiotics May Cut the Need for Antibiotics

According to the latest study, published in the European Journal of Public Health, regular use of probiotics may cut the necessity for antibiotics and help decrease the rise of antibiotic resistance. Having performed the analysis of the data, collected from recent...

Stem Cells from Baby Teeth Can Be Used to Fix Dead Teeth

Stem Cells from Baby Teeth Can Be Used to Fix Dead Teeth

A team of scientists from the University of Pennsylvania claims that they managed to patch up permanent teeth in children with the help of stem cells taken from baby teeth. The team performed the clinical trial that involved 30 children treated with the new method and...

[WpProQuiz 1]

Featured Products

The 5 Best Accessories for Sports Fans

It is very entertaining to be a sport fan. There is a big variety of sport games that are extremely interesting to follow. Moreover, it is always fun to anticipate the score and watch the enthusiasm live. One of the benefits of being sports fan is using different...

read more

Exercise May Serve as an Antidepressant

A new study of nearly 18,000 participants found that those with high fitness at middle age were significantly less likely to die from heart disease in later life, even if they were diagnosed with depression. Doctor's Tips: How to Stay Fit While Treating Depression Dr....

read more

Fitness: Warm Ups Can Chill Out the Perfomance

The warm ups are supposed to increase body temperature and blood flow so the muscles and surrounding joints become more responsive and prepared for physical activity. Although there’s a neurological element to warm-ups, most research focuses on the physiological...

read more