Aagenaes syndrome
Aagenaes syndrome
Aagenaes syndrome (pronounced: aa-gen-aa-es syndrome), also known as lymphedema cholestasis syndrome 1 (LSC1), is a rare genetic disorder characterized by lymphedema and cholestasis. The syndrome was first described by the Norwegian pediatrician Oystein Aagenaes in 1968.
Etymology
The term "Aagenaes syndrome" is derived from the name of the Norwegian pediatrician Oystein Aagenaes who first described the condition. The term "lymphedema cholestasis syndrome 1" (LSC1) describes the two main features of the syndrome: lymphedema, which is swelling due to an abnormal accumulation of lymph fluid, and cholestasis, which is a reduction or stoppage in the flow of bile.
Symptoms
The main symptoms of Aagenaes syndrome include jaundice, hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), and lymphedema (swelling in the legs due to a blockage in the lymphatic system). Other symptoms may include pruritus (itching), steatorrhea (fatty, foul-smelling stools), and failure to thrive.
Causes
Aagenaes syndrome is caused by mutations in the unknown gene. It is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Diagnosis
Diagnosis of Aagenaes syndrome is based on the clinical symptoms, especially the presence of lymphedema and cholestasis. Genetic testing may also be used to confirm the diagnosis.
Treatment
There is currently no cure for Aagenaes syndrome. Treatment is symptomatic and supportive, and may include measures to manage lymphedema, cholestasis, and other symptoms.
Prognosis
The prognosis for individuals with Aagenaes syndrome varies. Some individuals may experience severe complications, while others may have a relatively normal lifespan with appropriate management of symptoms.
External links
- Medical encyclopedia article on Aagenaes syndrome
- Wikipedia's article - Aagenaes syndrome
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