Workshop of general internal medicine
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1 Workshop of general internal medicine 17th annual congress BSIM December 7th-8th, 2012 Prof. Michel Lambert Dr. Renaud Lhommel Cliniques Universitaires Saint Luc, Brussels
2 Case n 1 27-year-old caucasian smoking man 3-week history of arthralgia (knees and ankles), lowgrade fever and weight loss (-5 kg). Indurated and painful «plaques» on lower limbs Relevant laboratory findings: CRP 6.4 mg/dl WBC 6710/µL-neutro 4480 Ly 1310
3 Chest X-Ray Bilateral multiple opacities measuring up to 50mmx40 mm associated with hilar and mediastinal lymphadenopathy
4 Chest CT Scan (frontal) Multiple parenchymal masses on both sides
5 Chest CT Scan (axial) Coalescent nodules in the upper segment of the right lower lobe. Small sub-pleural nodules are also observed on the left side.
6 Whole-body FDG-PET/CT Massively increased tracer uptake in the hilae, mediastinal lymphadenopathy and pulmonary nodules.
7 Your diagnosis? Wegener s granulomatosis Nodular pulmonary sarcoidosis Pulmonary Lymphoma Pulmonary Leiomyomatosis Lung metastases (seminoma) Tuberculosis
8 Additional investigations Bronchoscopy showed hyperhemic mucosa and transbronchic biopsy demonstrated noncaseating granulomas consistent with the diagnosis of sarcoidosis. BAL not performed (patient s intolerance) Pulmonary function tests: restrictive pattern Increased serum lysozyme and ACE
9 Final diagnosis Nodular pulmonary sarcoidosis revealed by erythema nodosum. R/ methylprednisolone 16 mg/day for 3 months with favourable outcome
10 Nodular pulmonary sarcoidosis Prevalence 2-4% of thoracic sarcoidosis Multiple pulmonary masses associated with hilar and mediastinal lymphadenopathy snowball pattern mimicking metastatic lesions Upper and middle zones distribution Coalescence of several sarcoid nodules galaxy sign Air bronchogram present Excavation in some instances (ischemic necrosis) Despite dramatic appearence, benign clinical course either spontaneously or after a course of corticosteroids
11 Case n 2 41-year-old type 1 diabetic man 6-month history of weight loss (-14kg), night sweats, polyuriapolydipsia, diffuse myalgia and myoclonia (upper and lower limbs). General and neurologic physical examination unremarkable Pertinent laboratory findings CRP 0.5 mg/dl HbA1c 7% Urea 96 mg/dl-creatinine 3.22 mg/dl Calcium 14.3 mg/dl-p 4.1 mg/dl-calciuria 728 mg/24h PTH 3 pg/ml (Nl 16-81)- 25(OH)D3 6 ng/ml (Nl 30-80) CK 103 IU/L (Nl<200) Chest-X Ray: normal EMG: pseudo-myotonic pattern- no PNP
12 Whole-body FDG-PET/CT A TIGER MAN Multiple linear uptakes of FDG diffusely distributed along the bundles of skeletal striated muscles, mimicking the coat of a tiger.
13 Your diagnosis? Polymyositis Statin-induced myopathy Muscular FDG-uptake after insulin administration Sarcoid myopathy Steinert myopathy
14 Muscular biopsy (vastus medialis)
15 Sarcoid myopathy Final diagnosis Favourable clinical and biological evolution after corticosteroid treatment (MP 32mg/day)
16 Sarcoid myopathy Asymptomatic muscle involvement: common (50-80% of routine muscle biopsies) Muscle symptoms: % - rarely inaugural and isolated 3 clinical patterns: Chronic myopathy (85%): slowly progressive (months-years), symmetric, predominantly proximal weakness (trunk and neck), sometimes painful with subsequent muscular waisting. Electrophysiological studies: nonspecific abnomalities.normal CK values Acute myositis (10%): patients <40 yr, associated with arthralgia and systemic symptoms, symetric proximal distribution, muscle weakness less common, EMG: pattern similar to polymyositis, increased serum CK Nodular myositis (3%): multiple palpable sometimes painful nodules, lower extremities ++, normal EMG and CK.
17 Case n 3 35-year-old Moroccan man Low back pain dysuria erectile dysfunction paresis of right lower limb Spinal cord MRI : «tumor» of the cona terminalis with enhancement after gadolinium
18 Ependymoma? Astrocytoma? Inflammatory process? > Surgery proposed but declined
19 6 months later : cervical lymphadenopathy biopsy : non-caseating granulomas search for mycobacteria negative FDG-PET/CT performed
20 - Multiple hypermetabolic lymphadenopathy: mediastinal, inguinal, axillary - Spinal cord: hypermetabolic lesion (level T12-L1)
21 Final diagnosis: systemic sarcoidosis with spinal cord involvement Oral corticotherapy (MP 32 mg/d) : decrease of lesion size Baseline MRI Control MRI
22 Neurosarcoidosis CNS involved in up to 25% at autopsy 5-10% patients with neurologic symptoms : Cranial nerve palsies (facial and optic nerves++) Aseptic lymphocytic meningitis Mass lesions (ataxia, seizures, cognitive dysfunction, psychiatric symptoms) Central diabetes insipidus
23 Neurologic involvement precedes the diagnosis of sarcoidosis in up to 75%, is associated with other systemic symptoms in 50% but may be the only manifestation in 10-15% of patients Spinal cord involvement : uncommon (<5% of NS): Cervical spine ++, often associated with meningoencephalitic symptoms. Diagnostic role of gadolinium MRI and FDG-PET/CT
24 42-year-old man Case n 4 Palpitations, syncope, flu-like symptoms ECG : bouts of ventricular tachycardia, alternating complete and 1 st degree A-V block Echocardiography : marked left ventricular dysfunction Presomptive diagnosis of viral myocarditis
25 5 days later relapse of well tolerated bouts of ventricular tachycardia alternating with sinusal bradycardia and supraventricular tachycardia external electric cardioversion Cardiac MRI
26 Cardiac MRI Dilation and hypertrophy of left ventricle with severe systolic dysfunction multiple hepato-splenic nodules
27 A presomptive diagnosis of systemic sarcoidosis with cardiac and hepato-splenic involvement was made and confirmed by transbronchic biopsy showing non-caseating granulomas R/ iv corticosteroids antiarrhythmic drugs Implantable defibrillator programmed But sudden death at home.
28 Cardiac sarcoidosis 25% of patients examined at autopsy Clinically apparent in only 5% but responsible of 50% of deaths of patients Most common location : left ventricular free wall with involvement of the conducting system
29 Clinical presentation : Cardiomyopathy with heart failure Tachy/bradyarrhythmias (palpitations, syncope, sudden death) May be the first sign of sarcoidosis
30 Diagnosis : Holter ECG Electrophysiologic studies (conduction abnormalities, increased risk of sustained arrhythmias) Echocardiography Cardiac MRI with gadolinium enhancement Endomyocardial biopsy : low diagnostic yield (<20%) (left>>> right ventricle) PET/CT : valuable aid (sites for biopsy)
31 Case n 5 61-year-old non-smoking woman low-grade fever of 1 year duration fatigue dry cough Physical examination : unremarkable Biological findings : CRP 5.0 mg/dl serum creatinine 1.3 mg/dl GFR 40 ml/min urinalysis : aseptic leucocyturia normal serum and urinary calcium
32 Chest-X ray : bibasal parenchymal infiltrates Fibroscopy : hyperemic mucosa Transbronchic biopsy : non-caseating granulomas
33 FDG PET/CT : intense tracer uptake in both lung parenchyma and in both kidneys! Pneumo-renal syndrome Favourable clinical, biological and imaging evolution after 3 months of oral corticosteroids
34 Renal and genito-urinary sarcoidosis Most common manifestations : Hypercalciuria (40%) isolated or with hypercalcemia (±10%) nephrogenic diabetes insipidus / nephrocalcinosis / renal calculi Interstitial granulomatous nephritis renal failure in some cases Various glomerulonephritides : uncommon Pseudo-tumoral renal sarcoid : rare
35 - Genito-urinary system involvement : rare (10 times more common in Afro-americans). Testicular or epididymal mass++ (DD: malignant tumor) Often associated with recognized sarcoidosis but may be clinically silent and reveal the disease diagnostic challenge
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37 Role of 18F-FDG PET/CT in sarcoidosis Assessment of disease activity Pulmonary sarcoidosis : correlation between SUV and CD4/CD8 ratio in BAL Extension work-up : recognition of unexpected occult sites for diagnostic biopsy while no readily available biopsy site is identified or possible (f.e. uveitis) Assessment of therapeutic efficacy
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