Aagenaes syndrome
Encyclopedia
A syndrome
characterised by congenital hypoplasia
of lymph vessels, which causes lymphedema
of the legs and recurrent cholestasis
in infancy, and slow progress to hepatic cirrhosis and giant cell
hepatitis
with fibrosis
of the portal tracts.
The genetic cause is unknown, but it is autosomal recessively inherited
and the gene is located to chromosome 15q1,2. A common feature of the condition is a generalised lymphatic anomaly, which may be indicative of the defect being lymphangiogenetic
in origin1. The condition is particularly frequent in southern Norway
, where more than half the cases are reported from, but is found in patients in other parts of Europe
and the U.S.
. It is named after Oystein Aagenaes, a Norwegian paediatrician.
Also called cholestasis-lymphedema syndrome (CLS).
Syndrome
In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...
characterised by congenital hypoplasia
Hypoplasia
Hypoplasia is underdevelopment or incomplete development of a tissue or organ. Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells. Hypoplasia is similar to aplasia, but less severe. It is technically not the opposite of hyperplasia...
of lymph vessels, which causes lymphedema
Lymphedema
Lymphedema , also known as lymphatic obstruction, is a condition of localized fluid retention and tissue swelling caused by a compromised lymphatic system....
of the legs and recurrent cholestasis
Cholestasis
In medicine, cholestasis is a condition where bile cannot flow from the liver to the duodenum. The two basic distinctions are an obstructive type of cholestasis where there is a mechanical blockage in the duct system such as can occur from a gallstone or malignancy and metabolic types of...
in infancy, and slow progress to hepatic cirrhosis and giant cell
Giant cell
A giant cell is a mass formed by the union of several distinct cells . It can arise in response to an infection or foreign body.Types include:* foreign-body giant cell* Langhans giant cell* Touton giant cells...
hepatitis
Hepatitis
Hepatitis is a medical condition defined by the inflammation of the liver and characterized by the presence of inflammatory cells in the tissue of the organ. The name is from the Greek hepar , the root being hepat- , meaning liver, and suffix -itis, meaning "inflammation"...
with fibrosis
Fibrosis
Fibrosis is the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process. This is as opposed to formation of fibrous tissue as a normal constituent of an organ or tissue...
of the portal tracts.
The genetic cause is unknown, but it is autosomal recessively inherited
Heredity
Heredity is the passing of traits to offspring . This is the process by which an offspring cell or organism acquires or becomes predisposed to the characteristics of its parent cell or organism. Through heredity, variations exhibited by individuals can accumulate and cause some species to evolve...
and the gene is located to chromosome 15q1,2. A common feature of the condition is a generalised lymphatic anomaly, which may be indicative of the defect being lymphangiogenetic
Lymph vessel
In anatomy, lymph vessels are thin walled, valved structures that carry lymph. As part of the lymphatic system, lymph vessels are complementary to the cardiovascular system. Lymph vessels are lined by endothelial cells, and deep to that have a thin layer of smooth muscles, and adventitia that bind...
in origin1. The condition is particularly frequent in southern Norway
Norway
Norway , officially the Kingdom of Norway, is a Nordic unitary constitutional monarchy whose territory comprises the western portion of the Scandinavian Peninsula, Jan Mayen, and the Arctic archipelago of Svalbard and Bouvet Island. Norway has a total area of and a population of about 4.9 million...
, where more than half the cases are reported from, but is found in patients in other parts of Europe
Europe
Europe is, by convention, one of the world's seven continents. Comprising the westernmost peninsula of Eurasia, Europe is generally 'divided' from Asia to its east by the watershed divides of the Ural and Caucasus Mountains, the Ural River, the Caspian and Black Seas, and the waterways connecting...
and the U.S.
United States
The United States of America is a federal constitutional republic comprising fifty states and a federal district...
. It is named after Oystein Aagenaes, a Norwegian paediatrician.
Also called cholestasis-lymphedema syndrome (CLS).
See also
- Lymphedema-distichiasis syndrome
- Lymphedema praecoxLymphedema praecoxLymphedema praecox is a condition characterized by swelling of the soft tissues in which an excessive amount of lymph has accumulated, and generally develops in females between the ages of nine and twenty-five.- See also :* Lymphedema...
- Blueberry muffin babyBlueberry muffin babyBlueberry muffin baby is a term used to describe the characteristic distributed purpura due to extramedullary hematopoiesis found in infants.It was originally considered characteristic of rubella, but is now considered to be potentially associated with many other conditions, such as cytomegalovirus...