🧬 FCPS MCPS IMM MD Paediatrics TOACS

Observed Station · Rheumatic Diseases · Data Interpretation

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📋 Data Interpretation Station

Pediatric Rheumatic Diseases – Clinical Scenarios with Lab Data

You will be presented with 8 clinical scenarios of children with suspected rheumatic diseases. For each, interpret the lab data and provide: 1) Diagnosis, 2) Any other test, 3) What to do next, 4) Follow-up plan.

SLE: ANA, dsDNA, low C3/C4 JIA: arthritis >6 weeks, ANA, RF JDM: heliotrope, Gottron, ↑CK Kawasaki: fever, conjunctivitis, rash Sjögren: anti-Ro/La, parotitis
Case 1 A 14-year-old girl with malar rash, oral ulcers, and fatigue for 3 months.
Hemoglobin10.2 g/dL (low, normal 12-16)
WBC3.5 × 10³/µL (low)
Platelets120,000/µL (low)
ANAPositive (1:640, homogenous)
C345 mg/dL (low, normal 75-135)
UrinalysisProtein 2+, RBC 5-10/HPF
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
Model Answer:
Diagnosis: Systemic Lupus Erythematosus (SLE) – malar rash, oral ulcers, cytopenias, positive ANA, positive anti-dsDNA, low C3/C4, proteinuria.
Any other test: Anti-dsDNA, C4, 24-hour urine protein, kidney biopsy (to assess lupus nephritis class), anti-Smith, anti-Ro/La, anti-RNP, antiphospholipid antibodies, direct Coombs.
What to do next: Start hydroxychloroquine 5 mg/kg/day. For nephritis: pulse IV methylprednisolone then oral prednisone + mycophenolate mofetil (or IV cyclophosphamide).
Follow-up plan: Monitor proteinuria, serum creatinine, C3/C4, anti-dsDNA. Adjust immunosuppression. Annual ophthalmology for HCQ retinal toxicity.
Case 2 A 4-year-old girl with limping and swelling of the left knee for 8 weeks.
Hemoglobin11.5 g/dL (normal)
WBC8.0 × 10³/µL (normal)
Platelets350,000/µL (normal)
ESR38 mm/hr (elevated, normal <20)
CRP12 mg/L (elevated, normal <5)
ANAPositive (1:160, speckled)
Rheumatoid FactorNegative
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
Model Answer:
Diagnosis: Oligoarticular Juvenile Idiopathic Arthritis (JIA) – arthritis of one joint for >6 weeks, ANA positive, elevated ESR/CRP, no systemic symptoms.
Any other test: Anti-CCP (if RF negative but high suspicion), HLA-B27, anti-nuclear antibody (already done). Ophthalmology slit-lamp exam for uveitis (ANA+ high risk).
What to do next: NSAIDs (naproxen 15 mg/kg/day). Intraarticular corticosteroid injection (triamcinolone hexacetonide) for the knee. Methotrexate if refractory.
Follow-up plan: Regular ophthalmology exams (every 3-4 months) to screen for asymptomatic uveitis. Monitor joint status, growth, and function.
Case 3 A 3-year-old boy with fever for 6 days, bilateral conjunctival injection without exudate, strawberry tonguend.
Hemoglobin10.0 g/dL (low-normal)
WBC18,000/µL (elevated)
Platelets450,000/µL (elevated)
ESR85 mm/hr (elevated)
CRP180 mg/L (elevated)
Albumin3.0 g/dL (low, normal 3.5-5.0)
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
Model Answer:
Diagnosis: Kawasaki Disease (KD) – fever ≥5 days + ≥4 principal criteria (conjunctivitis, oral changes, rash, extremity changes, cervical lymphadenopathy), elevated inflammatory markers, coronary dilation.
Any other test: Echocardiogram ( coronary dilation), ECG, baseline LFTs, urinalysis, blood cultures (exclude sepsis), viral studies (adenovirus, EBV, measles).
What to do next: IVIG 2 g/kg as single infusion (within 10 days of fever). Start high-dose aspirin 30-50 mg/kg/day divided q6h until afebrile for 48 hours, then low-dose aspirin 3-5 mg/kg/day.
Follow-up plan: Repeat echocardiogram at 2 weeks and 6-8 weeks. If coronary aneurysms persist, continue aspirin ± warfarin/LMWH and cardiology follow-up.
Case 4 A 7-year-old girl with progressive muscle weakness, rash over eyelids.
Hemoglobin12.0 g/dL (normal)
WBC8.5 × 10³/µL (normal)
Platelets280,000/µL (normal)
Creatine Kinase (CK)850 U/L (elevated, normal 24-195)
Aldolase15 U/L (elevated, normal 1.5-8.1)
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
Model Answer:
Diagnosis: Juvenile Dermatomyositis (JDM) – heliotrope rash, Gottron papules, proximal muscle weakness, elevated CK/aldolase, muscle edema on MRI.
Any other test: ANA, MRI Thigh, Myositis-specific antibodies (TIF1γ, NXP2, MDA5, Mi2), EMG, muscle biopsy (if diagnosis uncertain), swallow study (dysphagia risk), PFTs, nailfold capillaroscopy.
What to do next: Start prednisone 2 mg/kg/day (or IV methylprednisolone pulse 30 mg/kg/day for 3 days) + methotrexate 15-20 mg/m²/week as steroid-sparing agent. Physical therapy.
Follow-up plan: Monitor muscle strength, CK, swallow function. Screen for calcinosis, lipodystrophy, GI vasculitis. Taper steroids slowly over 6-12 months.
Case 5 A 13-year-old girl with recurrent parotid swelling, and dry mouth for 6 months.
Hemoglobin11.8 g/dL (normal)
WBC5.0 × 10³/µL (normal)
Platelets220,000/µL (normal)
ANAPositive (1:320, speckled)
Schirmer Test3 mm wetting at 5 min (abnormal)
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
Model Answer:
Diagnosis: Primary Sjögren Syndrome – recurrent parotitis, sicca symptoms, positive anti-Ro/La, abnormal Schirmer test, labial salivary gland biopsy (focus score ≥1).
Any other test: Complete blood count, renal function (type I RTA), LFTs, thyroid function,Anti-Ro (SSA), Anti-La (SSB), complement (C3/C4), cryoglobulins, SPEP, ophthalmology exam for keratoconjunctivitis, Salivary gland biopsy gor lymphocytic infiltrate.
What to do next: Symptomatic: artificial tears, pilocarpine (for xerostomia), topical cyclosporine for eyes. Systemic: hydroxychloroquine 5 mg/kg/day. Excellent dental hygiene.
Follow-up plan: Monitor for extraglandular manifestations (arthritis, vasculitis, RTA, cytopenias). Annual ophthalmology. Watch for lymphoma (persistent parotid swelling).
Case 6 A 14-year-old boy with chronic heel pain, swelling of right ankle, and morning stiffness for 3 months.
Hemoglobin12.5 g/dL (normal)
WBC7.0 × 10³/µL (normal)
Platelets280,000/µL (normal)
ESR45 mm/hr (elevated)
CRP25 mg/L (elevated)
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
Model Answer:
Diagnosis: Enthesitis-related arthritis (ERA) / juvenile spondyloarthritis – asymmetric arthritis, enthesitis (heel pain), HLA-B27 positive, sacroiliitis on MRI, family history.
Any other test: Pelvis X-ray (chronic changes), baseline PFTs (chest expansion), ophthalmology for uveitis, HLA-B27, MRI Sacroiliac, baseline inflammatory markers.
What to do next: NSAIDs (naproxen or indomethacin) for axial symptoms. If peripheral arthritis: sulfasalazine or methotrexate. TNF inhibitor (adalimumab) if inadequate response or axial involvement.
Follow-up plan: Monitor for uveitis (slit-lamp exams), spinal mobility, disease activity. Physical therapy for posture and range of motion.
Case 7 A 4-year-old with daily spiking fevers (39.5°C), salmon-pink rash, joint pain, and hepatosplenomegaly. Now has sudden deterioration.
Hemoglobin8.5 g/dL (low)
WBC2.8 × 10³/µL (low)
Platelets80,000/µL (low)
ESR15 mm/hr (low, falling from 70)
Ferritin12,000 ng/mL (markedly elevated)
ALT180 U/L (elevated)
Triglycerides280 mg/dL (elevated)
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
Model Answer:
Diagnosis: Macrophage Activation Syndrome (MAS) complicating Systemic JIA – fever, cytopenias, falling ESR, hyperferritinemia, transaminitis, hypertriglyceridemia, hypofibrinogenemia.
Any other test: Fibrinogen, Coagulation profile (PT, aPTT, D-dimer), bone marrow aspirate (hemophagocytosis), serum ferritin (trend), cytokine panel (IL-18, IL-6).
What to do next: STAT: high-dose IV methylprednisolone 30 mg/kg/day (max 1g) + anakinra (IL-1 inhibitor) 2-4 mg/kg/day SC or IV cyclosporine (1-3 mg/kg/day).
Follow-up plan: Monitor ferritin, CBC, LFTs daily. Taper steroids when MAS resolves. Consider IL-1 or IL-6 inhibitor for underlying sJIA.
Case 8 A 12-year-old with fever, wrist drop, hypertension, and abdominal pain.
Hemoglobin10.0 g/dL (low)
WBC15,000/µL (elevated)
Platelets450,000/µL (elevated)
ESR95 mm/hr (elevated)
CRP120 mg/L (elevated)
Creatinine1.8 mg/dL (elevated, normal 0.5-1.0)
ANCANegative
HBsAgNegative
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
Model Answer:
Diagnosis: Polyarteritis Nodosa (PAN) – medium vessel vasculitis with mononeuritis multiplex, hypertension, mesenteric/renal microaneurysms on angiography, negative ANCA.
Any other test: Angiography fir Microaneurysms in renal and mesenteric arteries, Tissue biopsy (nerve, muscle, skin) to confirm vasculitis, hepatitis B screen (negative), serum creatinine, urinalysis, echocardiogram, abdominal imaging.
What to do next: Induction: IV methylprednisolone 30 mg/kg/day x3 then oral prednisone + IV cyclophosphamide (500-750 mg/m² monthly) or oral cyclophosphamide 2 mg/kg/day.
Follow-up plan: Monitor BP, renal function, neurologic exam, angiography (if needed). Maintenance: azathioprine or methotrexate after 6 months. Consider ACE inhibitor for hypertension.
⚠️ Key Concept: Approach to Pediatric Rheumatic Diseases
SLE: ANA, anti-dsDNA, low C3/C4, nephritis → HCQ + MMF/cyclophosphamide
JIA: Arthritis >6 weeks → NSAIDs, MTX, biologics; screen for uveitis
Kawasaki: Fever + ≥4 criteria → IVIG + aspirin
JDM: Heliotrope, Gottron, ↑CK → steroids + MTX
Sjögren: Anti-Ro/La, parotitis → HCQ, symptomatic
ERA: HLA-B27+, enthesitis → NSAIDs, TNFi
MAS: sJIA, falling ESR, hyperferritinemia → steroids + anakinra/cyclosporine
PAN: Microaneurysms → steroids + cyclophosphamide

🎯 Examiner Scoring Checklist

  • • Identifies SLE (ANA, dsDNA, low C3/C4, nephritis)
  • • Recognizes oligoarticular JIA (arthritis >6 weeks, ANA+)
  • • Identifies Kawasaki (fever, conjunctivitis, oral changes, coronary dilation)
  • • Recognizes JDM (heliotrope, Gottron, ↑CK)
  • • Identifies Sjögren (anti-Ro/La, parotitis, Schirmer)
  • • Recognizes ERA (HLA-B27+, sacroiliitis, enthesitis)
  • • Identifies MAS (falling ESR, hyperferritinemia, cytopenias)
  • • Recognizes PAN (microaneurysms, mononeuritis multiplex)
📌 Key Rheumatic Disease Interpretation:
SLE: ANA + dsDNA + low C3/C4 + cytopenias/nephritis → HCQ + steroids + MMF/CYC
JIA: Arthritis ≥6 weeks → NSAIDs → MTX → biologics (TNFi)
Kawasaki: Fever + ≥4 criteria + coronary dilation → IVIG + aspirin
JDM: Heliotrope + Gottron + ↑CK → steroids + MTX
Sjögren: Anti-Ro/La + parotitis + sicca → HCQ + symptomatic
ERA: HLA-B27+ + enthesitis + sacroiliitis → NSAIDs, TNFi
MAS: Falling ESR + hyperferritinemia + cytopenias → steroids + anakinra/cyclosporine
PAN: Microaneurysms + mononeuritis multiplex → steroids + cyclophosphamide