AssessmentsAlagille syndrome (NORD)
USMLE® Step 1 style questions USMLE
USMLE® Step 2 style questions USMLE
A 7-month-old boy comes to the clinic because of a concerning yellowing of his skin. On physical examination jaundice is visible and a triangular shaped face. There is also a ring-like opacity around the edge of the cornea on eye exam. Plain film shows "butterfly-shaped" vertebrae. Which of the following is the most likely diagnosis?
Content Reviewers:Yifan Xiao, MD
Affected individuals have a reduced number of bile ducts in the liver.
As a result, there is a decrease in bile flow, also known as cholestasis.
Some patients may also have an enlarged spleen or liver.
Deficiencies in specific vitamins may result in vision problems from a lack of Vitamin A, bone weakness from a lack of vitamin D, developmental delays from a lack of Vitamin E, and blood clotting problems from a lack of Vitamin K.
The heart can also be impacted by Alagille syndrome.
The most common finding in ALGS patients is peripheral pulmonary arterial stenosis.
This means that the blood vessels carrying blood to the lungs are narrowed.
The stenosis typically manifests as a heart murmur, or an extra sound in the heartbeat.
Symptoms are based on the degree of narrowing of the blood vessel and some people may have no symptoms while others may have dizziness, shortness of breath, increased sweating, chest pains, and cyanosis, or bluish colored skin.
The most common congenital heart defect in ALGS patients is tetralogy of Fallot.
There are many distinct facial features that are characteristic of Alagille syndrome.
These include a broad forehead, deeply set and widely spaced eyes, and a pointed chin.
This finding should not affect vision.