Clinical case 2 Survey

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* 1. Name

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* 2. Email (use your work email)

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.

Question Title

* 3. Choose diagnoses. Record your impression of the differential diagnosis (using or ignoring the software results as you deem appropriate) by ranking at least 1 and up to 3 diagnoses from the list provided. You get the most credit for having the correct diagnosis as rank #1, but you also get some credit for having it in other positions. (One selection allowed per column)

	Rank 1	Rank 2	Rank 3
Angelman syndrome	Angelman syndrome Rank 1	Angelman syndrome Rank 2	Angelman syndrome Rank 3
Burn-McKeown syndrome	Burn-McKeown syndrome Rank 1	Burn-McKeown syndrome Rank 2	Burn-McKeown syndrome Rank 3
CDK13-related disorder	CDK13-related disorder Rank 1	CDK13-related disorder Rank 2	CDK13-related disorder Rank 3
CHARGE syndrome	CHARGE syndrome Rank 1	CHARGE syndrome Rank 2	CHARGE syndrome Rank 3
Chromosome 18q deletion syndrome	Chromosome 18q deletion syndrome Rank 1	Chromosome 18q deletion syndrome Rank 2	Chromosome 18q deletion syndrome Rank 3
Chromosome 1p36 deletion syndrome	Chromosome 1p36 deletion syndrome Rank 1	Chromosome 1p36 deletion syndrome Rank 2	Chromosome 1p36 deletion syndrome Rank 3
Chromosome 1q43q44 deletion syndrome	Chromosome 1q43q44 deletion syndrome Rank 1	Chromosome 1q43q44 deletion syndrome Rank 2	Chromosome 1q43q44 deletion syndrome Rank 3
Chromosome 3q29 recurrent deletion syndrome	Chromosome 3q29 recurrent deletion syndrome Rank 1	Chromosome 3q29 recurrent deletion syndrome Rank 2	Chromosome 3q29 recurrent deletion syndrome Rank 3
Chromosome 4p proximal deletion	Chromosome 4p proximal deletion Rank 1	Chromosome 4p proximal deletion Rank 2	Chromosome 4p proximal deletion Rank 3
Chromosome 5p deletion syndrome	Chromosome 5p deletion syndrome Rank 1	Chromosome 5p deletion syndrome Rank 2	Chromosome 5p deletion syndrome Rank 3
Cohen syndrome	Cohen syndrome Rank 1	Cohen syndrome Rank 2	Cohen syndrome Rank 3
Developmental & epileptic encephalopathy	Developmental & epileptic encephalopathy Rank 1	Developmental & epileptic encephalopathy Rank 2	Developmental & epileptic encephalopathy Rank 3
EIEE49: early infantile epileptic encephalopathy, DENND5A-related	EIEE49: early infantile epileptic encephalopathy, DENND5A-related Rank 1	EIEE49: early infantile epileptic encephalopathy, DENND5A-related Rank 2	EIEE49: early infantile epileptic encephalopathy, DENND5A-related Rank 3
Hennekam lymphangiectasia-lymphedema syndrome 2	Hennekam lymphangiectasia-lymphedema syndrome 2 Rank 1	Hennekam lymphangiectasia-lymphedema syndrome 2 Rank 2	Hennekam lymphangiectasia-lymphedema syndrome 2 Rank 3
Infantile hypotonia, psychomotor retardation, characteristic facies	Infantile hypotonia, psychomotor retardation, characteristic facies Rank 1	Infantile hypotonia, psychomotor retardation, characteristic facies Rank 2	Infantile hypotonia, psychomotor retardation, characteristic facies Rank 3
Lowry-MacLean syndrome	Lowry-MacLean syndrome Rank 1	Lowry-MacLean syndrome Rank 2	Lowry-MacLean syndrome Rank 3
Malpuech syndrome	Malpuech syndrome Rank 1	Malpuech syndrome Rank 2	Malpuech syndrome Rank 3
Microcephaly	Microcephaly Rank 1	Microcephaly Rank 2	Microcephaly Rank 3
Mucolipidosis II	Mucolipidosis II Rank 1	Mucolipidosis II Rank 2	Mucolipidosis II Rank 3
Nabais Sa-de Vries syndrome	Nabais Sa-de Vries syndrome Rank 1	Nabais Sa-de Vries syndrome Rank 2	Nabais Sa-de Vries syndrome Rank 3
Neurodevelopmental disorder with microcephaly, arthrogryposis, & structural brain anomalies	Neurodevelopmental disorder with microcephaly, arthrogryposis, & structural brain anomalies Rank 1	Neurodevelopmental disorder with microcephaly, arthrogryposis, & structural brain anomalies Rank 2	Neurodevelopmental disorder with microcephaly, arthrogryposis, & structural brain anomalies Rank 3
Opitz G/BBB syndrome	Opitz G/BBB syndrome Rank 1	Opitz G/BBB syndrome Rank 2	Opitz G/BBB syndrome Rank 3
Rett syndrome	Rett syndrome Rank 1	Rett syndrome Rank 2	Rett syndrome Rank 3
Ring chromosome 14 syndrome	Ring chromosome 14 syndrome Rank 1	Ring chromosome 14 syndrome Rank 2	Ring chromosome 14 syndrome Rank 3
Seckel syndrome	Seckel syndrome Rank 1	Seckel syndrome Rank 2	Seckel syndrome Rank 3
Short stature, optic nerve atrophy, and Pelger-Huet anomaly	Short stature, optic nerve atrophy, and Pelger-Huet anomaly Rank 1	Short stature, optic nerve atrophy, and Pelger-Huet anomaly Rank 2	Short stature, optic nerve atrophy, and Pelger-Huet anomaly Rank 3
Smith-Magenis syndrome	Smith-Magenis syndrome Rank 1	Smith-Magenis syndrome Rank 2	Smith-Magenis syndrome Rank 3
Smith-Lemli-Opitz syndrome	Smith-Lemli-Opitz syndrome Rank 1	Smith-Lemli-Opitz syndrome Rank 2	Smith-Lemli-Opitz syndrome Rank 3
Trisomy 13 (Patau syndrome)	Trisomy 13 (Patau syndrome) Rank 1	Trisomy 13 (Patau syndrome) Rank 2	Trisomy 13 (Patau syndrome) Rank 3
Williams syndrome	Williams syndrome Rank 1	Williams syndrome Rank 2	Williams syndrome Rank 3
Wolf-Hirschhorn syndrome	Wolf-Hirschhorn syndrome Rank 1	Wolf-Hirschhorn syndrome Rank 2	Wolf-Hirschhorn syndrome Rank 3

Clinical case 2

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