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1. COMPLEX PRESENTATION OF SARCOIDOSIS IN A DEAF
ADOLESCENT: A CASE STUDY
House M.D s05e21- Saviors

2. CASE SUMMARY
 Seth, a deaf adolescent with a history of wrestling-related weight cutting and
previous tobacco use, presented with a complex array of symptoms including
seizures, blindness, post-operative fever, and respiratory distress. Given his
inability to communicate verbally, diagnostic evaluation was challenging. Initial
differential diagnoses included thrombocythemia, pulmonary embolism, and
multiple sclerosis (MS). However, further investigation revealed tobacco stains
on Seth's teeth, suggesting a potential link between his past tobacco use and his
current condition. Examination of enlarged lymph nodes and clinical
observations supported the diagnosis of sarcoidosis, a systemic inflammatory
disease characterized by granulomatous inflammation. Treatment with
corticosteroids and methotrexate was initiated, leading to symptom
improvement and stabilization of Seth's condition. Seth's mother played a crucial
role in advocating for his care and facilitating communication with the medical
team. Long-term management and monitoring are essential to assess treatment
response and disease progression in Seth's case. This case highlights the
importance of thorough diagnostic evaluation, effective communication
strategies for patients with special needs, and individualized treatment planning
in optimizing patient outcomes

3. DIAGNOSIS
1. Medical History and Physical Examination: The healthcare provider will begin by
obtaining a detailed medical history, including symptoms, risk factors, and past
medical conditions. They will then perform a thorough physical examination to
assess for signs of sarcoidosis, such as enlarged lymph nodes, skin lesions, or
respiratory symptoms.
2. Laboratory Tests: Blood tests may be ordered to assess for markers of
inflammation and organ dysfunction. Common laboratory tests include:
 Complete blood count (CBC)
 Comprehensive metabolic panel (CMP)
 Erythrocyte sedimentation rate (ESR) or C-reactive protein (CRP)
 Serum calcium levels
 Liver function tests

4. DIAGNOSIS
3. Imaging Studies: Imaging tests are crucial for evaluating the extent and severity of sarcoidosis
involvement in various organs. Common imaging studies include:
 Chest X-ray: This may reveal characteristic findings such as bilateral hilar lymphadenopathy and
pulmonary infiltrates.
 High-resolution computed tomography (HRCT) scan: HRCT provides detailed images of the lungs
and is more sensitive than chest X-ray for detecting lung abnormalities.
 Magnetic resonance imaging (MRI) or computed tomography (CT) scan: These imaging modalities
may be used to assess involvement of other organs such as the heart, liver, spleen, or central
nervous system.
4. Pulmonary Function Tests (PFTs): PFTs help assess lung function and detect respiratory
impairment, which is common in sarcoidosis. Spirometry, lung volume measurements, and
diffusion capacity tests may be performed.

5. DIAGNOSIS
5.Tissue Biopsy: When indicated, a tissue biopsy is often necessary to confirm the diagnosis of sarcoidosis
and rule out other conditions with similar presentations. Biopsy samples can be obtained from affected
organs, such as the lungs, skin, lymph nodes, or other involved tissues. Histopathological examination of
biopsy specimens typically reveals non-caseating granulomas, a hallmark of sarcoidosis.
6.Specialized Tests: In some cases, specialized tests may be performed to assess specific organ
involvement or complications of sarcoidosis. These tests may include:
 Electrocardiogram (ECG) or echocardiogram: To evaluate cardiac function and detect cardiac manifestations.
 Ophthalmic examination: To assess for ocular involvement, such as uveitis or granulomatous inflammation of
the eyes.
 Neurological tests: To evaluate for central nervous system involvement, which may include imaging studies,
lumbar puncture, or nerve conduction studies.
7. Exclusion of Other Conditions: Sarcoidosis is a diagnosis of exclusion, meaning other conditions with
similar clinical features must be ruled out. Differential diagnoses may include infections, autoimmune
diseases, malignancies, and other granulomatous disorders.

6. TREATMENT
 Corticosteroids:
 Mechanism of Action: Corticosteroids exert anti-inflammatory and immunosuppressive effects
by inhibiting pro-inflammatory cytokines and immune cell activity.
 Regular Dosage: Initial dosage typically ranges from 20 to 40 mg/day orally, tapered gradually to
the lowest effective maintenance dose.
 Potential Adverse Effects: Include adrenal suppression, immunosuppression, metabolic effects
(e.g., hyperglycemia), osteoporosis, and gastrointestinal effects.
 Methotrexate:
 Mechanism of Action: Inhibits dihydrofolate reductase, leading to inhibition of DNA synthesis
and cell proliferation.
 Regular Dosage: Administered orally or intramuscularly once weekly, with initial dosage of 7.5 to
15 mg/m2.
 Potential Adverse Effects: Include hematologic toxicity, hepatotoxicity, gastrointestinal effects,
pulmonary toxicity, and renal toxicity.
 Other Immunosuppressants:
 Azathioprine: Suppresses T-cell and B-cell function, typically administered orally at a starting
dosage of 1 to 2 mg/kg/day.
 Mycophenolate Mofetil: Inhibits T-cell and B-cell proliferation, administered orally at a dosage
of 1 to 1.5 g twice daily.

7. TREATMENT
 Biologic Agents:
 TNF Inhibitors: Target TNF-alpha, administered via subcutaneous or intravenous routes
for severe, refractory sarcoidosis.
 Monoclonal Antibodies: Target IL-12 and IL-23, administered via subcutaneous injection
for modulating T-cell-mediated immune responses.
 Interactions and Precautions:
 Drug Interactions: Pharmacists should monitor for interactions with other
medications, particularly NSAIDs, anticoagulants, and vaccines.
 Contraindications: Active infections, pregnancy, breastfeeding, severe hepatic or
renal impairment, and hypersensitivity to medications.
 Monitoring: Regular monitoring of complete blood count, liver function tests, renal
function tests, and inflammatory markers is essential to assess treatment response
and detect adverse effects.

8. CONCLUSION
 Regular monitoring of treatment response and adverse effects allows
for timely adjustments to therapy and optimization of therapeutic
outcomes. Ultimately, a multidisciplinary approach that encompasses
the expertise of healthcare professionals, including physicians, nurses,
pharmacists, and other allied health professionals, is essential for
delivering comprehensive and patient-centered care to individuals with
sarcoidosis.