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 1st
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..:

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

19. • Anthropometry :
Weight : 18 kg
Height : 113 cm
BMI : 14.09 kg/m2
(falls between
10th
& 25th
centile)
General examination cont..:

20. Systemic examination :

21. 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

22. 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 5th
intercostal space.
Alimentary system exam cont.. :

23. • 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.. :

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

25. • 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 :

26. 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..:

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

28. Salient features :
Ayesha, a-7-year-old immunized girl, 1st
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,

29. 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.. :

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

31. 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 :

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

33. • 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..:

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

35. 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

36. 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..:

37. Complete blood count : Reference value
Hb% 09 g/dl 11.5-15.5 g/dl
WBC count (TC) 9,030/ mm3
4,500-13,500/mm3
DC WBC N (81%) ; L (14%)
M (05%) ; E (00%)
Platelet count 1,30,000/ mm3
1,50,000-
4,00,000/mm3
Reticulocyte
count
1.8 % Up to 2%
Investigations cont.. :

38. 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

39. 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.

40. 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

41. Investigations cont.. :
• To find out etiology :
1. 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)

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

43. 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

44. 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

45. Investigations cont.. :
Next plan:
• Upper GI endoscopy

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

47. Management :
Counseling:
• General counseling :
- About the disease
- Treatment options
- Prognosis
• Genetic counseling:

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

50. 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)

51. 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

52. 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)

53. 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 :

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

55. 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..:

56. 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

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