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MPS I

Gaynor Hesketh

Created on February 8, 2024

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Transcript

Rheumatology

Gastroenterology

Endocrinology

Ear, Nose & Throat

Cardiology

Pediatrics

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Ophthalmology

This demo version is only for Endocrinologists

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Title 2

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Welcome to the Disease Diagnosis Challenge

A young patient named David has been referred to you with idiopathic short stature. This is your first consultation with David and his Mom.​You see patients like David every day, but is there more to this case than meets the eye?​Investigate the constellation of clues in your consultation with David and decide on the next course of action. ​

Investigate!

You have a new patient!​

Take a closer look at David's case

Thank you for seeing us today, Doctor. We have been worried as David doesn’t seem to be growing as tall as we expected, and we have seen a lot of doctors.​

Take a closer look at David's case

David’s Mom is clearly worried about his development. Investigate his symptoms to reveal clues and learn more…​

Make a decision about David’s care​

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Looking at David’s growth, you can see his height has been tracking more than −2 SD below the median at all time points. ​

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Looking at David’s records, you can see this is not the first time he has been referred due to concerns about his growth.​I In fact, you can see that he has been receiving treatment in the form of leuprolide acetate (3.75 mg/month) and has also been treated with a recombinant human growth hormone (0.1 UI/kg/day).​ But David seems to be unresponsive to these treatments.​

Based on the clues you have seen, what would you do next?​

Refer to a specialist​

Initiate a new treatment​

Consult metabolic disease centre​

Conduct further examinations​

Take another look at the clues in David’s case​

You chose to refer to a specialist​

Interesting. Is there one symptom that has you thinking a specialist referral may be the answer for David? ​It could be that the constellation of symptoms David is experiencing are related and a different course of action may be more beneficial.​

Change your decision​

Take another look at the clues in David’s case​

You chose to initiate a new treatment​

David does have several symptoms that could benefit from treatment, but do you think it is possible to get to the root cause of these symptoms? Treating one of these symptoms may be masking the problem, when digging a little deeper may help you to see how these symptoms could relate.​

Change your decision​

Take another look at the clues in David’s case​

You chose to conduct further examinations​

Looking deeper could reveal more.​Are there more clues to reveal? Looking beyond the obvious can reveal more symptoms that may seem unrelated, but this constellation of symptoms could help you take the next best steps for David.​

Change your decision​