1 / 66

Clinico – Pathological Conference

January 04, 2006. Clinico – Pathological Conference. Dr. Asma Ambreen Postgraduate Trainee Medical Unit - II Holy Family Hospital, Rawalpindi. Case No. 1. Hafiz M. Abdullah, 55 years old, teacher from Muzaffarabad.

denali
Télécharger la présentation

Clinico – Pathological Conference

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. January 04, 2006 Clinico – Pathological Conference Dr. Asma Ambreen Postgraduate Trainee Medical Unit - II Holy Family Hospital, Rawalpindi

  2. Case No. 1 • Hafiz M. Abdullah, 55 years old, teacher from Muzaffarabad.

  3. He presented with gradual tightening of skin and stiffness, started initially in hands and feet and became generalized later on and progressive bluish discoloration of the digits of both hands and feet on exposure to cold (Raynaud’s phenomenon) for the last 12 years. • He also developed increasing joint stiffness, shortening of digits, de-pigmentation on the scalp and loss of hair, falling of teeth, dysphagia, initially for solids and later on for liquids, anorexia and progressive weight loss. • Rest of the systemic enquiry, past history and family history was normal.

  4. Examination • GENERAL PHYSICAL EXAMINATION A middle aged gentleman, of thin built, sitting in bed comfortably • BP 135/100mmHg • Pulse 82/min

  5. Pallor -ve Clubbing -ve • Cyanosis -ve Koilonychia -ve • Jaundice -ve Leuconychia -ve • Edema -ve • JVP not raised • Lymph nodes not palpable • Thyroid not enlarged

  6. MICROSTOMIA with limited mouth opening • Beaked nose • Generalized tight and stiff skin • Bilateral swollen and shortened fingers • Calcinosis over left elbow, left little finger with exudation • Loss of hair and de pigmentation on the scalp. • SYSTEMIC EXAMINATION • Unremarkable

  7. Provisional Diagnosis • PROGRESSIVE SYSTEMIC SCLEROSIS

  8. Investigations • BLOOD CP 22-11-05 • Hb 15.4 g/dL MCV 81.2 fl MCH 27.7 pg MCHC 34.1 g/dL • WBC 7400/cmm N 76% L 19% M 03% E 02% • PLTS 190000/cmm • RETICS 0.3% NORMOCYTIC, NORMOCHROMIC

  9. Investigations • BIOCHEMISTRY • UREA 31mg/dL • CREATININE 0.8mg/dL • Na 139 mmol/L • K 4.1 mmol/L • Ca 8.7 mmol/L • RBS 92mg/dL

  10. Investigations • LFTs 22-11-05 • Bilirubin 0.7 mg/dL • ALT 15 u/L • ALK Phosphatase 235 u/L • URINE R/E25-11-05 • Normal • COAGULATION PROFILE 22-11-05 • PT 15/13 sec • APTT 35/32 sec • CHEST X-RAY • Normal

  11. X-RAYS HANDS • Resorption of the tufts of terminal phalanges of both thumbs • Pointed terminal phalanges of all the fingers

  12. USG ABDOMEN 01-12-05 • Normal • UPPER GI ENDOSCOPY 02-12-05 • Normal • SKIN BIOPSY • Epidermis is unremarkable and dermis shows increased amount of dense collagen with absence of adipose tissue around appendages OPINION: CONSISTENT WITH SCLERODERMA

  13. ECHOCARDIOGRAPHY 28-11-05 • Aortic root is normal, LA normal • LV normal size, well functioning. No regional wall abnormality. Valves appear normal. • No abnormal flow on color doppler; mitral E:A preserved • Ejection fraction 75% CONCLUSION: LV good systolic function & normal diastolic function

  14. AUTOIMMUNE PROFILE • ANA –ve • RA factor –ve • Anti Extractable Nuclear Antigen Antibodies • Anti Sm Antibodies -ve • Anti RNP Antibodies -ve • Anti SSA Antibodies -ve • Anti SSB Antibodies -ve • Anti Jo1 Antibodies -ve • Anti Scl. 70 Antibodies -ve

  15. Final Diagnosis • Progressive Systemic Sclerosis Variant: CREST SYNDROME • New terminology: LcSSc (Limited Cutaneous Systemic Sclerosis)

  16. CASE NO. 2 • Azmat Bibi, 40 years old, housewife from Mandi Baha-ud-din.

  17. She had been married for the last 24 years (1981), had her first baby after 1 year of marriage who died 3-4 hours after normal SVD at home. In 1983, she had a male child who is alive and healthy. In 1986, she had an abortion at 7 months of gestation. In 1992, she had a female child who is alive and healthy.

  18. One and a half year following the birth of her youngest daughter, she started having generalized tonic clonic fits and progressive painful bluish discoloration of digits of both hands and feet on exposure to cold (Raynaud’s phenomenon). • Following this, she had three abortions at 6-7 months of gestation in the next six years.

  19. Her Raynaud’s phenomenon worsened gradually in the following years and she developed gangrene of multiple digits of both hands and feet. • For two months she had exertional dyspnea, orthopnea and paroxysmal nocturnal dyspnea on and off.

  20. Examination • GENERAL PHYSICAL EXAMINATION A middle aged lady, of average built, sitting in bed comfortably, well oriented in time, place and person. • BP 120/90mmHg • Pulse 124/min, completely irregular

  21. Pallor +ve Clubbing -ve • Cyanosis -ve Koilonychia -ve • Jaundice -ve Leuconychia -ve • Bilateral pitting edema • Raised JVP • MICROSTOMIA • Gangrene of multiple digits • Lymph nodes not palpable • Thyroid not enlarged

  22. CARDIOVASCULAR SYSTEM • Tapping apex beat in 5th ICS 2cm lateral to midclavicular line • Loud P2 • Mid diastolic rumbling murmur at the apex • RESPIRATORY SYSTEM • Bilateral fine crackles up to apices

  23. GASTROINTESTINAL SYSTEM • Hepatomegaly 3 fingers below costal margins • Other viscera are not palpable • CENTRAL NERVOUS SYSTEM • Unremarkable

  24. Differential Diagnosis • DcSSc (Diffuse Cutaneous SYSTEMIC sclerosis) • SLE/Overlap syndrome • Anticardiolipin syndrome • Mitral stenosis leading to systemic emboli

  25. Investigations • BLOOD CP 02-12-05 21-12-05 • Hb 9.5 g/dL 11.0g/dL MCV 88.2 fl Hypochromia + MCH 23.7 pg Microcytosis + MCHC 26.8 g/dL Anisocytosis + Poikilocytosis + • WBC 10600/cmm 4700/cmm N 87% 74% L 09% 12% M 02% 02% E 02% 02% • PLTS 185000/cmm 149000/cmm • ESR 10

  26. BIOCHEMISTRY 23-11-05 24-11-05 27-11-05 02-12-05 • UREA 160 75 100 110 • CREATININE 4.6 3.5 • Na 133 134 142 • K 4.6 4.1 3.9 • Ca 8.4 • RBS 128 102

  27. LFTs • Bilirubin 1.2 mg/dL • ALT 50 u/L • ALK Phosphatase 254 u/L • COAGULATION PROFILE 27-11-05 02-12-05 05-12-05 (After Heparinization) • PT 13/13 23/13 17/12 • APTT 30/28 49/32 38/32

  28. URINE R/E • Normal • LIPID PROFILE • Cholesterol 94 mg/dL • Triglycerides 168 mg/dL

  29. USG ABDOMEN (01-12-2005) • Congestive hepatomegaly • Renal parenchymal disease grade I • Minimal ascites • Right pleural effusion

  30. ECHOCARDIOGRAPHY 19-12-05 • Thickened calcified mitral valve • Severe MS – MVA 0.9 cm2 • Mild MR • Dilated left atrium with suspected clot in LA • Normal LV function • PAP 80mmHg • Ejection fraction 75% • TRANS-ESOPHAGEAL ECHOCARDIOGRAPHY 23-12-05 • Severe MS • Massively dilated LA • Large mobile clot in left atrium and left auricular appendage

  31. AUTOIMMUNE PROFILE • ANA –ve • ANCA –ve • Anti ds DNA –ve • Anti cardiolipin Antibodies –ve • Anti Extractable Nuclear Antigen Antibodies • Anti Sm Antibodies -ve • Anti RNP Antibodies -ve • Anti SSA Antibodies -ve • Anti SSB Antibodies -ve • Anti Jo1 Antibodies -ve • Anti Scl 70 Antibodies -ve

  32. Final Diagnosis • DcSSc (Diffuse Cutaneous Systemic Sclerosis) • Mitral Stenosis

  33. Issues??? • Probable cause of gangrene? • SCLERODERMA • EMBOLIC PHENOMENON • Mitral stenosis? • RHEUMATIC ORIGIN • SCLERODERMA

  34. Literature Review Dr. Nadeem Iqbal Sheikh Associate Professor of MedicineMedical Unit – II Holy Family Hospital, Rawalpindi

  35. Systemic Sclerosis(Scleroderma) • A multisystem disorder • Unknown aetiology • Incidence 10/million • Male : female ratio 3:1 • Peak incidence 30 – 50 years

  36. Types • Localised (Scleroderma) • Systemic • Limited cutaneous Scleroderma (LcSSc) 60% • Diffuse Cutaneous Scleroderma (DcSSc) 40%

  37. Vascular Features • Genetic predisposition • Infection ?? • Environmental toxin • Tissue hypoxia >>>>>>> IMMUNE ACTIVATION

  38. Fibrotic Features • Increased synthesis of • collagen type I & III • Fibronectin • Glycosaminoglycans >>>>Fibrosis in lower dermis, internal organs

More Related