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Child born with Down's syndrome, mother has lupus erythematosus. Yellow sclera of eyes, drop in energy, weight loss. What could be a differential diagnosis?

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Practicing since : 2008
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XXXXXXX . XXXXXXX is an 8 year of girt who was bon with Trisomy 21 or Down Syndrome. Her parents feel very blessed to have her as XXXXXXX mother (who suffered from Lupus Erythematosus) was told that she would not be able to fall pregnant. It was not until she was 38 years old that she discovered to her surprise that she was expecting. She is the life of the party and a very active child all day long. Despite her condition, XXXXXXX has had excellent health until lately when her mother notice the sclera of her eyes being yellow in colour and her energy levels had dropped considerably. She is losing weight and her parent are now very concerned.

What could be a possible differential diagnosis, going on Sara’s clinical history? For now, focus your comments/discussion to this point only.
Posted Sat, 9 Jun 2012 in Child Health
Answered by Dr. Ashwini Kolur 2 hours later
Thanks for your query.

I will try my best to provide you with best possible professional recommendations to your questions.

It will be nice if you inform whether the white part of the eye known as sclera is yellowish or is there any spots on the colored part of the eye(Brushfield spots).
Brushfield spots are seen in children with down's syndrome.

Regarding the yellowish discoloration of sclera, these occur when bilirubin builds up because of diseases and conditions that cause liver dysfunction, or block the bile ducts.

Certain conditions of the gallbladder or pancreas, such as pancreatitis or gallstones, can cause obstruction of the bile ducts, which leads to jaundice and yellowing of the eyes. Hepatitis and cirrhosis and certain blood disorders can also cause these.

I advice you to go for complete blood count and liver function test and ultra sound abdomen will be helpful to rule abnormalities in blood cells, lever and gall stones if present using the above mentioned tests.

I also advice for regular check up of the child and consult the physician for examination and also to find the cause of yellowish discoloration of eyes.

Yet again, I do hope that you have found something helpful and I will be glad to answer any further query.

If you do not have any clarifications, you can close the discussion and rate the answer.

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