Talking About Aagenaes Syndrome

If you have never heard about "Blueberry Muffin Baby", its a little known disease that has another name; Aagenaes Syndrome. It's always hard to see little ones suffer especially when they are born, so what is this syndrome and what does it mean? This syndrome is something that affects the lymph vessels, and it's important to be able to identify it and what it means.

What is Aagenaes Syndrome?

Aagenaes syndrome is characterized by something doctors call hypoplasia, in which a tissue or organ is not completely developed. However, it is better known as underdeveloped cells, causing a bluish spot that somewhat resembles a blueberry. This is where the term "Blueberry Muffin Baby" comes in; this condition is characterized with this type of appearance in infants, and as you can imagine is disconcerting to the new mom and dad. This condition of hypoplasia is strictly known as something that is congenital, meaning that it appears at birth but it doesn't necessarily mean that it's hereditary.

In the early 1960's, this condition was what many pediatricians identified with babies that were born with a disease known as rubella. The infants that were born with this condition at this time showed symptoms that were of similar nature to the Aagenaes Syndrome. The blueberry like appearance shows up just below the skin and can show up in various places on the body.

The first time that a condition like this was ever documented was in the early 1920's. It was believed that the process of this disease would begin while in utero, and naturally something of a subcutaneous nature would be very difficult if not impossible to see on an ultrasound. What can be seen are significant changes in organ development or growth, and thus could point a physician in the direction of looking for other causes.

Blueberry Muffin Syndrome and Neuroblastoma

A neuroblastoma is one of the most critical problems associated with "blueberry muffin baby" syndrome. A neuroblastoma is usually evident with the blueberry colored rings under the eyes, and the tumor can be easily identified with the use of a CT scan. Blood work may be suggested along with other types of testing to confirm this diagnosis, and can even be associated with leukemia. The earlier that this is discovered the quicker the course of treatment will be developed.

Other vascular disorders could be identified with these same markings, but the only clear way to figure it out is to get a doctor involved. The skin lesions are merely an indicator of what may lie beneath, but it is so important to get the testing done as soon as possible so that you as a parent know what you are dealing with.

Department of Skin and STD

Kasturba Medical College

Manipal, India