This document presents 4 case scenarios of patients with possible Wilson's disease: 1) A 16-year-old boy with liver dysfunction, tremors, and other symptoms. Tests confirmed low ceruloplasmin and elevated urine copper, diagnosing Wilson's disease. 2) An 8-year-old boy with a family history of liver disease. Low ceruloplasmin and KF rings confirmed Wilson's disease. 3) A 38-year-old man with liver dysfunction and severe neurological symptoms. Tests confirmed Wilson's disease affecting both the liver and brain. 4) A 2-year-old asymptomatic girl with a family history. Testing revealed subclinical Wilson's disease,

1. Case scenarios in Wilson disease
Aabha Nagral
Pramod Mistry, Ashish Bavdekar,
Pettarusp Wadia

2. Case 1
• 16 year old boy, BMI 28, presented with
oedema feet and abdominal distension
• Born of a non consanguineous marriage
• On examination, has oedema feet, mild icterus
and moderate ascites, mild tremors and mask
like facies, gait is slow

3. Investigations
Liver profile
• serum albumin of 2.6g/dl, globulin 4.5 g/dl
• s.bilirubin of 3mg/dl
• INR of 2.2
• AST 210, ALT 140 IU/L
• alkaline phosphatase of 780 IU/L (upto130),
• GGT 220 (upto 85)

4. • Hb of 10.1 g/dl, WBC of 4800/cmm, platelet
count of 1,00,000/cmm
• Lipid profile – normal
• Blood sugars – normal
• USG abdomen: liver cirrhosis with 15 cm
splenomegaly and collaterals with ascites
• Ascites – high SAAG ascites with 200 cell count
• small esophageal varices on upper GI scopy

5. Is this Wilson disease ?
• Hep B, C, ANA 1:40 1+ , other autoimmune markers
negative
• Serum ceruloplasmin 15 mg/dl (20-60)
• 24 hr urine copper pre 75 and post d-penicillamine
340 mcg in 24 hrs
• No KF ring
• Liver HP: macrovescicular fat, cholestasis and mild
interface hepatitis,lymphocytic infiltrate copper stain
positive)
• Liver copper estimation 210 mcg/gm dry wt of liver

6. Diagnosed as Wilson disease…
• Started on d-penicillamine
• Started on low dose 250 mg twice a day
• Had episodes of recurrent hepatic
encephalopathy grade 2, not always with a
precipitating factor
• No significant response in liver function

7. MANGANESE DEPOSITION IN LIVER FAILURE
Hyperintensity in globus pallidi on T1W images,
Changes usually not present on T2W images

8. WILSONS DISEASEN T2 WEIGHTED IMAGES
Signal abnormalities in pons ,midbrain,basal ganglia and thalami

9. WILSONS DISEASEN T2 WEIGHTED IMAGES
Signal abnormalities in pons ,midbrain,basal ganglia and thalami

10. Diagnosis
PSC with autoimmune features ? Overlap
syndrome

11. Diagnosis of Wilson disease
KF rings
Serum ceruloplasmin
Serum copper
24 hr urinary copper
Post Pencillamine challenge 24 hr urinary copper
Liver copper stain and quantification
MRI brain
NO SINGLE TEST CAN BE CONSIDERED A GOLD
STANDARD FOR DIAGNOSIS

12. Case 2
• 8 year old boy AM
• Born of a third degree consanguineous
marriage marriage with history of distension
of abdomen, oedema feet, melena
• Has had a sib dying of liver failure at age of 7
years ... No diagnosis reached
• He is investigated..
• Low ceruloplasmin of 4 mg/dl, Hb 10 g/dl,
WBC 4000/cmm, plat 75,000/cmm

13. KF rings on slit lamp

14. • USG suggestive of cirrhosis and 14cm large
spleen with collaterals s/o portal hypertension
• Gastroscopy – large esophageal varices which
were banded
• Started on salt restriction, diuretics,
supportive treatment

15. What is the specific drug of choice for Wilson
disease?
• D-penicillamine *
• Zinc
• Trinetene
• Zinc + d-penicillamine
• How would you approach a patient with low
platelets secondary to hypersplenism?

16. • Liver function improved
• Platelet counts
improved
• Went off diuretics
• Came back after 15
days with fever……
• Had fever and cough
and was given drugs by
the family practitioner

17. Follow up
• Treated with steroids
• Recovered
• Put on zinc therapy in the interim
• Liver function worsened .. Redeveloped
ascites and an episode of spontaneous
bacterial peritonitis

18. What next?
• Rechallenge with d-penicllamine
• Zinc
• Trientene

19. Case 3
• 38 year old man presented with tremors,
drooling of saliva, rigidity, slurring of speech
• Works as a writer in the high court where
main work involves writing
• Handwriting has changed and illegible

20. • Also, distension of abdomen, oedema feet and
one episode of variceal bleed for which he
underwent band ligation
• Investigations reveal Child C cirrhosis with portal
hypertension
• Low ceruloplasmin of 6 mg/dl and KF rings
present
• Diagnosis of Wilson disease with
liver and neurological involvement
(Child C and MELD 17)

21. • Started on d-penicillamine (250 mg) 2-2
and within 15 days, neurological symptoms
significantly worsened
• Unable to get from bed, stopped talking and
unable to swallow

22. What next?
• Stop d-penicillamine or reduce it
• Substitute another drug – zinc, trientene
• Started on trientene 250 mg twice a day
• Liver function improved marginally

23. • Neurologically could not swallow – PEG tube
feeding,
• could not speak
• Handwriting was not legible
• Rigidity worse, close to getting contractures

24. • What additional medications/procedures for
neurological symptoms?
• Role of tetrathiomolybdate?
• Is the patient a candidate for liver
transplantation?
• Will neurology improve?

25. Case 4
• 2 year asymptomatic girl child born of a
second degree consanguineous marriage
• 2 brothers dying at the age of 7 yrs one after
the other of jaundice, abdominal distension
and unconsciousness
• The mother has had a tubal ligation and this
girl is the only surviving child for the family

26. Questions asked by the family
• Is this child doomed to have a similar fate as
her brothers
• Can this child be treated if diagnosed to have
a similar problem as her brothers
• Can the mother have a reversal of her tubal
ligation and hope to bear a normal child

27. Investigations
• Serum ceruloplasmin 12 mg/dl
• LFT normal except for AST 76 and ALT 66 IU/l
• 24 hr urine copper pre and post d-
penicillamine 140 and 1200 mcg in 24 hrs
• No KF ring
• Liver dry copper estimation 625 mcg

28. How will we diagnose Wilson disease in this
child?
• Initially treated with d-penicillamine and once
her 24 hr urine copper reduced to less than
500, was switched over to zinc acetate
• Has been on treatment for 8 years

29. How does one monitor on treatment?
• Urine copper
• Complete blood count
• Urine protein
• Urine zinc
• Free copper- serum copper – 3 (serum
ceruloplasmin)

30. Thank you