WILSON disease by Dr. Shafiqur.FINAL.pptx

Wilson disease

1. Welcome To Clinical Meeting Dr. Mohammad Shaiqul Islam MD- Residency ( Phase B) Bangladesh Shishu Hospital and Institute

2. Particulars of the patient : Name : Ayesha Akhter Age : 7 years Sex : Female Address : Soilokupa , Jhenaidah Date of admission : 31.12.2024 Date of examination : 04.01.2025 Informant : Mother

3. Chief complaints : Yellow discoloration of eyes and skin for 1 month. Gradual abdominal distension for 10 days. Alteration of sleep pattern for 3 days.

4. History of present illness : According to the statement of informant mother, her child was reasonably well 1 month back. Then she developed yellow discoloration of eyes and skin which was deepening gradually day by day associated with loss of appetite, nausea and occasional episodes of vomiting. Mother also noticed gradual abdominal distension for 10 days.

5. Mother also added that her child had become excessively sleepy during the day time & awake at night for the past 3 days. There was no previous H/O jaundice, any bleeding manifestation, altered level of consciousness, deterioration of school performance, any sib death, history of blood transfusion or taking any offending drugs. History of present illness cont.. :

6. With these complaints she was initially treated by local physician. As the condition was not improving she was referred to Bangladesh Shishu Hospital and Institute for further evaluation and better management. History of present illness cont.. :

7. She had no other significant past illness. History of past illness :

8. Treatment history : She was initially treated by a local physician with some oral medications but mother could not mention the name. After admission she received several oral and injectable medications.

9. Birth history : Her birth history was uneventful.

10. Feeding history : She is on family diet. Immunization history : Immunized as per EPI schedule.

11. Developmental history : Age appropriate. Personal history : She reads in class 2 and her school performance is good from the beginning.

12. Family history : She is the 1 st issue of her consanguineous parents. There was no history of sib death. Other sib is healthy.

13. Socio-economic history : She belongs to a lower middle class family. Her father is an auto driver & mother is a homemaker. There are total 5 members in the family. Father’s monthly income is around 15,000 tk (3000 tk per person). They live in a tin shed house, use sanitary latrine and drink tubewell water.

14. General examination : Appearance : Ill looking Consciousness : Conscious Anemia : Mildly pale Jaundice : Deeply icteric Cyanosis : Absent Edema : Absent Dehydration : Absent

15. Clubbing : Absent Koilonychia : Absent Leukonychia : Present Thenar and hypothenar wasting : Present Lymph nodes : Not palpable Skin survey : BCG mark - present No bleeding manifestations General examination cont..:

16. Eyes : Normal Ears, nose, throat : Normal Signs of meningeal irritation : Absent BSUA : Nil General examination cont..:

17. Vital parameters : Pulse rate : 94/ min, volume- good Respiratory rate : 22/ min Temperature : 98°F Blood pressure : 100/60 mmHg (falls on 50 th centile) General examination cont..:

18. Anthropometry : Weight : 18 kg Height : 113 cm BMI : 14.09 kg/m 2 (falls between 10 th & 25 th centile) General examination cont..:

19. Systemic examination :

20. Alimentary system examination : Mouth and fauces : Normal Abdomen: Inspection : - Abdomen was distended - Flanks were full - Umbilicus was centrally placed, everted - No visible engorged veins or scar mark

21. Palpation : Abdomen : Soft, non tender Liver : Palpable , 5 cm from right costal margin along mid-clavicular line, non tender, firm in consistency, sharp border with smooth surface, upper border of liver dullness was on right 5 th intercostal space. Alimentary system exam cont.. :

22. Spleen : Palpable , 4 cm from left costal margin along its long axis having sharp border with smooth surface. Abdominal girth : 58 cm Kidneys : Not ballotable Urinary bladder : Not palpable Alimentary system exam cont.. :

23. Percussion : Fluid thrill : Absent Shifting dullness : Present Auscultation : Bowel sound : Present Alimentary system exam cont.. :

24. Higher psychic function : Conscious, oriented, speech was normal but she had trouble in drawing figures (constructional apraxia). Cranial nerves : Intact Motor function : In upper and lower limbs: Muscle bulk : Normal Muscle tone : Normal Nervous system examination :

25. Superficial and deep reflexes : Normal Plantar response : Flexor ( Bilaterally) Flapping tremor : Absent Sensory function : Intact Involuntary movement : Absent Co-ordination of movement : Normal Gait : Normal Nervous system exam cont..:

26. Other systemic examination : Other systemic examination revealed normal findings.

27. Salient features : Ayesha, a-7-year-old immunized girl, 1 st issue of her consanguineous parents presented with jaundice for 1 month, abdominal distension for 10 days and alteration of sleep pattern for 3 days. She had no previous H/O jaundice, any sib death, blood transfusion, hematemesis, melaena,

28. deterioration of school performance or taking any offending drugs. She was conscious, oriented, mildly pale, deeply icteric having stigmata of CLD in the form of leukonychia, thenar and hypothenar wasting. There was hepato-splenomegaly with ascites and constructional apraxia. Salient features cont.. :

29. Provisional diagnosis : Acute on chronic liver failure with portal hypertension with hepatic encephalopathy (stage I) due to Wilson Disease

30. 1. Acute on chronic liver failure with portal hypertension with hepatic encephalopathy (stage I) due to Viral Hepatitis 2. Acute on chronic liver failure with portal hypertension with hepatic encephalopathy (stage I) due to Auto-immune Hepatitis Differential diagnosis :

31. CBC with film S. Bilirubin S.ALT S.AST S.ALP S. Albumin Prothombin time, INR Plan of investigations :

32. USG of abdomen with doppler study of portal vein S. Ceruloplasmin 24 hour urinary copper Slit lamp examination of eye Viral markers ANA, Anti Smooth muscle antibody, Anti-LKM 1 Plan of investigations cont..:

33. RBS S. Electrolytes S. Creatinine Blood C/S Urine R/M/E Upper GI endoscopy Plan of investigations cont..:

34. Investigations : To assess present situation : Reference value: S. Bilirubin Total: 13.7 mg/dl Up to 1.0 mg/dl Direct: 8.2 mg/dl Indirect: 5.5 mg/dl S. ALT 44 U/L Up tp 65 U/L S. AST 477 U/L Up to 37 U/L S. ALP 52 U/L 70- 325 U/L

35. Reference value Prothrombin Time Test : 30 sec Control : 12.0 sec INR 2.5 < 1.5 S. Albumin 21.5 gm/L 35- 60 gm /L Investigations cont..:

36. Complete blood count : Reference value Hb % 09 g/dl 11.5-15.5 g/dl WBC count (TC) 9,030/ mm 3 4,500-13,500/mm 3 DC WBC N (81%) ; L (14%) M (05%) ; E (00%) Platelet count 1,30,000 / mm 3 1,50,000- 4,00,000/mm 3 Reticulocyte count 1.8 % Up to 2% Investigations cont.. :

37. Investigations cont.. : PBF : RBC: shows normocytic normochromic cells WBC: Mature with count and distribution Platelet: Decreased Comment: Mild normocytic normochromic anemia with neutrophilia and thrombocytopenia Coombs test: Direct , Indirect : Negative

38. USG of whole abdomen : Liver: Liver is enlarged in size (13.2 cm). Diffuse parenchymal echogenicity with prominent peri-portal echo. Biliary tree are not dilated. No focal lesion is seen. Spleen: Enlarged in size (11.0 cm). Echotexture is normal. Ascites seen. Comment: Suggestive of Hepatitis with splenomegaly with ascites.

39. Duplex Study of Portal vein Portal vein: Main portal vein and its branches were dilated (1.37 cm) cm in diameter. Wall was grossly thickened (0.54 cm) and irregular. There was periportal reactions. PSV was raised (>50 cm/sec) Hepatic vein & Splenic vein: Normal in diameter. Inferior Vena Cava: Measured about 0.54–0.94 cm showing normal flow. Comment: Portal Hypertension

40. Investigations cont.. : To find out etiology : For Wilson disease: Slit lamp examination of eyes KF ring found in both eyes S. Ceruloplasmin 4 mg/dl 20-50 mg/dl (N) 24 hours urinary Copper 2688 μg /24 hour <40 μg / 24 hour (N)

41. 2. For viral markers HBsAg Negative Anti-HBc Total Negative Anti-HCV Negative Investigations cont.. :

42. Investigations cont.. : 3. For Autoimmune Hepatitis ANA Not detected Negative Anti smooth muscle antibody 0.74 U/ml Negative Anti LKM antibody 1 4.2 U/ml Negative

43. Investigations cont.. : To see the complications : RBS 4.4 mmol/L S. Electrolytes Na : 136 mmo /L K : 3 .82 mmol/L Cl : 99 mmol/L S. Creatinine 75 μ mol/L Blood C/S No growth Urine R/M/E Normal

44. Investigations cont.. : Next plan: Upper GI endoscopy

45. Final diagnosis : Acute on chronic liver failure with portal hypertension with hepatic encephalopathy (stage I) due to Wilson Disease

46. Management : Counseling: General counseling : - About the disease - Treatment options - Prognosis Genetic counseling:

47. Management cont..: Supportive management: Bed rest Dietary advice : Copper restricted diet (< 1mg/day)

48. Management cont..: Inj. Phyto-menadione: 5 mg I/V once daily (0.25 mg/kg/day) Inj. 20% Human Albumin: 90 ml I/V infusion Inj. Cefuroxime: 750 mg I/V 8 hourly (125 mg/kg/day) Inj. Omeprazole: 15 mg I/V 12 hourly (1-2 mg/kg/day)

49. Management cont..: Syp . Lactulose (1-2 ml/kg/dose): 3 tsf 8 hourly Tab. Rifaximin (200 mg): 1 tablet 12 hourly Syp . L-ornithine + L-aspartate: ½ sachet 8 hourly Tab. Spironolactone: ½ tab 12 hourly Tab. Propranolol (10 mg): 1 tablet 12 hourly

50. Management cont..: Specific treatment : Syp . Zinc Sulphate Monohydrate (10mg/5ml) : 2 ½ tsf 8 hourly (2 hour after meal) Cap. Trientine hydrochloride (333 mg) : 20 mg/kg/day in divided dose (1 hour before meal)

51. During hospital stay: Disease follow up: - Clinical : Jaundice, abdominal girth, bleeding manifestation, F/O encephalopathy, vital signs Drug follow up: - Clinical : Pallor Follow up plan :

52. During hospital stay: Investigation: - CBC - Liver function test - S. Electrolytes - RBS Follow up plan cont..:

53. After discharge: Clinical: Symptoms, drug compliance, S/E of drugs Investigations: - Every 3 monthly : CBC, LFT, 24 hour urinary copper - Yearly : Slit lamp examination of eyes Follow up plan cont..:

54. Follow up schedule : 15 days interval for 1 month 1 monthly for 3 months 3 monthly for 1 year 6 monthly for 5 years Then according to patient’s condition life long

55. Kayser-Fleischer ring Serum ceruloplasmin 24 hour urinary copper Screening of sibling