This case presentation involves an 8-year-old male child with a history of congenital heart disease who was admitted with repeated episodes of hepatitis. On examination, the child was icteric with hepatomegaly. Laboratory investigations found elevated liver enzymes and copper levels. Imaging showed no abnormalities. Wilson's disease was considered as a differential diagnosis given the clinical features and laboratory findings. The patient was recommended for treatment with copper-chelating agents to limit copper uptake such as penicillamine or trientine.

1. Case Presentation
Dr Zarghona Ayaz
Resident pediatrician
Pediatric Unit A KTH

2. Contents
History And
Presentation
Examinations
And
Investigation
Differentials
And
Diagnosis
Summary And
Recommendations

3. HISTORY
AND
PRESENTATION
ATTA ULLAH 8 YEARS MALE CHILD WEIGHING 2O KGS ADMITTED
THROUGH EMERGENCY. PATIENTS IS ALSO KNOWN CASE OF
CONGENITAL HEART DISEASE . OPERTAED FOR CONGENITAL
HEART ANANOMAL AND POST SURGERY ECHO SHOWED NORMAL
FUNCTIONS.
PRESENTED HERE WITH THE COMPLAINT OF
REPEATED HEPATITIS EPISODES.

4. EXAMINATION
AND
INVESTIGATION
S
02
ON EXAMINATION
 ACTIVE
 ALERT
 HIGHLY ICTERIC
 CHEST CLEAR
 HEART S1+S2 +0
 DISTENDED TENDER ABDOMEN
 HEPATOMEGALY

5.  Anti TtG IgA > 0.93 ( Negative)
 Serum IgA > 4.22
 Cholesterol Levels 354
 Triglycerides 300
 Vitamin D levels 70
CELIAC WORKUP
INVESTIGATIONS

6. INVESTIGATIONS
BLOODS
 Coombs > Negative
 Retics Count > 1 %
 CRP > 31
 Bilirubin TOTAL 22 > 5.59 > 3.66 > 2.01
 ALT > 11.9 > 22.6 > 19.5 > 42
 SERUM ALBUMIN > 2.57
 PT /APTT /INR = 1
 TLC = 7.0
 HB = 10
 PLATELET = NORMAL
 PERIPHERAL SMEAR = MACROCYTIC ANEMIA
 SERUM CERULOPLASMIN =12

7. EYE CALL
 NO KF RINGS SEEN ON SLIT LAMP
EXAMINATION
OTHERS  POST VISTAMINE CHALLENGE URINARY
VOLUME = 1820
 24 HOUR URINARY COPPER = 1126
 BLOOD C/S =NEGATIVE
 URINE C/S =NEGATIVE
 HEPATITIS SEROLOGY = NEGATIVE

8. RADIOGRAPHICS

9. RADIOGRAPHICS

10. THINK ABOUT IT
DIFFRENTIALS
AND
DIAGNOSIS

11. Wilson disease (hepatolenticular degeneration) is a genetic
disorder of copper metabolism with an autosomal recessive
pattern of inheritance due to mutations that lead to impaired
function of the intracellular copper transporter
WILSON
DISEASE

12. The diagnosis is made by identifying low serum levels of ceruloplasmin,
elevated 24-hour urine copper excretion, the presence of Kayser-
Fleischer rings in the iris, evidence of hemolysis, and elevated hepatic
copper content. In any single patient, one or more of these measures
may be normal.

13. • SUMMARY AND RECOMMENDATIONS
• ●Clinical features – The clinical manifestations of Wilson disease are
predominantly hepatic, neurologic, and psychiatric, with many patients
having a combination of symptoms.
• •Age at symptom onset – The majority of patients with Wilson disease are
diagnosed between the ages of 5 and 35, though it has been diagnosed in
younger patients and in patients in their eighth decade of life.
• •Hepatic manifestations – Hepatic manifestations include acute liver
failure with a Coombs-negative hemolytic anemia, acute hepatitis, chronic
hepatitis, cirrhosis, steatosis, and asymptomatic liver biochemical
abnormalities. Regardless of presenting symptoms, some degree of liver
disease is usually present at the time of diagnosis of Wilson disease.
•

14. •Neurologic manifestations – The reported neurologic manifestations of
Wilson disease are broad, and diagnosing neurologic. The majority of
patients with neurologic Wilson disease have dysarthria and/or movement
disorders. Initially, it is common for one symptom to be present (often
unilaterally), but as the disease progresses, complex combinations of
neurologic signs and symptoms may develop.
•Behavioural and psychiatric symptoms – Behavioural and psychiatric
symptoms are more common in patients with neurologic involvement than in
patients with hepatic involvement. The most common behavioural and
psychiatric symptoms include depression (reported in 20 to 30 percent of
patients with Wilson disease), personality change and irritability.
•Other manifestations – Other clinical manifestations of Wilson disease
include Coombs-negative haemolytic anaemia and Kaiser-Fleischer rings.

17. TREATMENT
• Limiting copper uptake
• Administration of copper-chelating agents oral administration of
d-penicillamine (β,β-dimethylcysteine) in a dose of 1 g/day in 2
doses before meals for adults and 20 mg/kg/day for pediatric
patients or triethylene tetramine dihydrochloride (Trien, TETA,
trientine) at a dose of 0.5-2.0 g/day for adults and 20 mg/kg/day
for children.
• Triethylene tetramine dihydrochloride (Trien, TETA, trientine) at
a dose of 0.5-2.0 g/day for adults and 20 mg/kg/day for children.
• Ammonium tetrathiomolybdate is another alternative chelating
agent under investigation for patients with neurologic disease;
initial results suggest that significantly fewer patients experience
neurologic deterioration with this drug compared to penicillamine.

18. Thank You