Clinical case 2

INSTRUCTIONS.  
Read Case 2: A 1-year-old girl with seizures and dysmorphic features

A 1 yr. old girl with no prior history of seizures was admitted to the pediatric intensive care unit for treatment of status epilepticus. Her parents expressed no concerns about development in this, their first child, but a review of motor and intellectual developmental milestones revealed delays of 3-6 months in all areas. Pregnancy was unremarkable, but the baby was said to be small for dates.
 
On examination, the patient's appearance was different from her parents. Her mouth was unusual, with a short philtrum, downturned corners, and a small jaw. Her glabella was prominent, and her eyes were widely spaced with epicanthic folds. Weight and length were below the 5th percentile, and her head circumference was 4 standard deviations below the mean. Hypotonia was noted and was not thought to be due to treatment of the seizures.

Now, use SimulConsult to mull over the patient.

A. Get started. Login or go to start screen and clear patient data to start another case.

B. Enter initial data. On the Start screen of the software, begin by adding age (be sure to add the units) and sex.

C. Add findings as you did in the previous case.

D. See the initial software’s suggestions
View the evolving differential diagnosis at Dx on the navigation bar.

The blue shading indicates the probability of that disease based on the information entered. Cumulatively, the blue shading adds to 100%.

E. Refine the differential diagnosis (DDx)

Go to Add findings under the Dx tab on the black navigation bar. There you can add Useful clinical findings. The findings are ranked in terms of usefulness in narrowing the DDx.

Go to Add tests and use in the same way. Tests is a short-hand for test results, and because one test (such as a CBC or an image) can yield multiple results, they are offered as "Bundles".

Importantly, the Usefulness considers the cost of tests, and the treatability of the disease. As an example, Wilson's disease could be #25 in the DDx, and quite unlikely, but since the test is inexpensive, the treatability high, and the consequence of not treating deadly, testing for copper levels would be much higher in the usefulness ranking.

Each time you add a finding, the software recalculates the DDx and moves the finding from "Add findings" or "Add tests" to the Phenotype tab. The badges count the pertinent positive (green) and negative (red) findings entered.

E. Considering the fit with the disease

1. Profile. To see all the findings in a particular disease with their frequencies, click the disease and then Disease/Profile on the navigation bar.

2. Assess. To check the fit of the patient to a disease in the differential diagnosis, click the disease and then click Disease/Assess.

On the left, are the findings you have entered about the patient.
On the right, is what’s known about those findings in the selected disease.

The bar’s total length represents the frequency of the finding in the disease at any age; each bar is subdivided into the frequency before, at, or after the specified age. Using the arrows on the top right, you can click up and down in the differential diagnosis.

3. Prognosis Table. This summarizes what is known about the onset and frequency of a disease's clinical and lab findings - its natural history. Select a disease and click Report/Prognosis Table. This report can be saved as a PDF. PCORI-funded testing has shown primary care clinicians, and patients find this helpful.

4. Warning next to a disease. A red asterisk next to some diseases in the differential diagnosis indicates an important warning related to the disease. Click the asterisk to see the warning and associated links.

5. Links. Click a disease and Links on the black nav bar to see contextually relevant resources.

F. Considering the finding

1. Profile. To see all the diseases with a particular finding, click the finding and then click Finding/Profile.

2. Assess. To see all the diseases with a particular finding in the differential diagnosis, click the finding and then click Finding/Assess.

3. Pertinence of patient’s findings. Sometimes, a diagnosis rests heavily on a hard-to-ascertain finding that you might want to reconfirm. Go to Dx/Phenotype. The green shading represents the pertinence in driving the differential diagnosis.

4. Links. Click a finding and Links on the black nav bar to see contextually relevant resources.