Case 1: Clarence (Death Row Inmate)
Symptoms & Findings:
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Bluish nails and lips → Hypoxia
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Tachypnea (RR 50), pulmonary edema
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Sudden rage attacks, violent behavior
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MRI → Adrenal tumor
Diagnosis:
Pheochromocytoma — adrenal medulla tumor secreting excess catecholamines (epinephrine/norepinephrine).
→ Triggers episodic rage, tachycardia, hypertension, sweating.
Treatment:
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Adrenalectomy (tumor removal)
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Symptom resolution post-op
Key Concept:
Endocrine disorders can mimic psychiatric or behavioral syndromes.
Ethical Question:
If biology drives violent behavior, is the patient still morally responsible? (Foreman vs. House debate)
Case 2: Senator with Seizures and Brain Lesions
Presentation:
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Speech difficulty, weakness, confusion
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MRI → brain lesion
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Initially thought to be toxoplasmosis (often linked to HIV)
Workup:
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Patient denied HIV → tested secretly
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Low antibodies, normal T-cell count
Final Diagnosis:
Common Variable Immunodeficiency (CVID) — secondary to long-term Phenytoin (Dilantin) use and EBV infection.
→ Toxoplasmosis as secondary infection due to immune suppression.
Treatment:
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IV Immunoglobulin (IVIG) therapy
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Ongoing infection monitoring
Key Concepts:
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CVID: ↓ B & T cells → ↓ antibody production
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Toxoplasmosis: opportunistic parasitic infection
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Lesson: Immunodeficiency ≠ always HIV
Case 3: Man with Recurrent Tongue Swelling & Neuropathy
Symptoms:
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Repeated tongue/throat swelling
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Itching, burning
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Peripheral neuropathy
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Renal involvement
Differential:
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Allergy → ruled out
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Autoimmune (Lupus) → ruled out
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Heavy metal toxicity → confirmed
Final Diagnosis:
Gold poisoning (Chrysiasis) — from gold sodium thiomalate injections (arthritis therapy).
Wife administered it secretly “for his health.”
Findings:
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Heavy metal screen positive for gold
Lesson:
Consider toxic or iatrogenic causes when symptoms affect multiple organ systems (neuropathy + renal + mucocutaneous).
Case 4: Couple with Severe Abdominal Pain & Edema
Symptoms:
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Both with intense abdominal pain, hallucinations, swelling, and lactic acidosis
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Throat edema mimicking anaphylaxis
Workup:
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Allergic, autoimmune, and infectious causes ruled out
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Family link discovered
Final Diagnosis:
Hereditary Angioedema (HAE) — C1 esterase inhibitor deficiency
→ Recurrent airway, GI, and facial swelling.
Couple were half-siblings, sharing same genetic defect.
Treatment:
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C1 esterase inhibitor replacement therapy
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Androgens / antifibrinolytics for prevention
Lesson:
Genetic disorders can imitate allergic reactions.
Family connection can explain similar rare presentations.
Key Takeaways
| Concept | Explanation |
|---|---|
| Hypoxia | Low blood O₂ → cyanosis, confusion, tachypnea |
| Pheochromocytoma | Catecholamine-secreting adrenal tumor → episodic HTN, rage |
| CVID | Low immunoglobulins → chronic infections; not HIV |
| Toxoplasmosis | Parasite reactivates in immunodeficiency |
| Gold Poisoning | Heavy metal toxicity → neuropathy, renal damage |
| Hereditary Angioedema (HAE) | C1 inhibitor deficiency → recurrent non-allergic swelling |
| Adrenaline Surges | Cause sympathetic overdrive symptoms |
| Clinical-Ethical Theme | Biology vs. responsibility — when illness drives behavior |
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