What're the symptoms of alagille syndrome?
Symptoms of alagille syndrome range from mild to severe. Symptoms of alagille syndrome are jaundice, pale, loose stools, and poor growth within the first three months of life. Later, there is persistent jaundice, itching, fatty deposits in the skin,
and stunted growth and development during early childhood. Frequently the disease stabilizes between ages four and ten with an improvement in symptoms.
Other features, which help establish the diagnosis, include abnormalities in the cardiovascular system, the spinal column, the eye, and the kidneys. Narrowing of the blood vessel connecting the heart to the lungs (pulmonary artery) leads to extra heart sounds (murmurs) but rarely problems in heart function. The shape of the bones of the spinal column may look like the wings of a butterfly on x-ray but almost never cause any problems with function of the nerves in the spinal cord.
More than 90% of children with Alagille Syndrome have an unusual abnormality of the eyes. An extra, circular line on the surface of the eye requires a specialized eye examination to detect and does not lead to any disturbances in vision. In addition, some children have various abnormalities in their kidneys that may lead to minor changes in kidney function. |
