Moderator SK Yachha Panelists Aabha Nagral Ashish Bavdekar Banumathi Ramakrishna Prakash Vaidya Case Discussion Twelve year old child presents with jaundice ID: 1045332
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1. Presenter : Durga PrasadModerator: SK YachhaPanelists : Aabha Nagral, Ashish Bavdekar Banumathi Ramakrishna, Prakash VaidyaCase Discussion Twelve year old child presents with jaundice, ascites and coagulopathy
2. 10 year old presenting with Jaundice, Ascites and CoagulopathyDurga PrasadDept. of Pediatric Gastroenterology,Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow
3. 10 y Boy 1 month duration 2010Jaundice SGPGI No history of: Encephalopathy Variceal bleeding No past history of: Jaundice Blood transfusion Decrease in scholastic performanceAscites
4. Family historyIndex caseCase of hepatic - neurological Wilson’s disease diagnosed at 9 year of age Poorly compliant to therapyDied at 12 year of age
5. ExaminationWeight: 26 kg (25th - 50th ) Height: 130 cm (25th - 50th )Icterus +No pallorNo stigmata of chronic liver diseaseLiver – 3 cm , firm, irregular, span – 8 cm Spleen- 3 cmAscites +
6. Clinical Possibilities Chronic Liver Disease: Cirrhosis with Portal HypertensionDifferential Diagnosis:Wilson’s DiseaseAutoimmune Liver DiseaseChronic Hepatitis B
7. Workup at SGPGI (2010)Liver Function Test:TB / DB: 7 / 3.8 mg/dL AST / ALT: 277 / 100 u/L Total Protein: 7.3 g/dL Albumin: 2.8 g/dL ALP: 674 u/L, GGT: 56 u/L INR: 2.3 (uncorrectable)Ascitic Fluid: High serum ascites albumin gradient No spontaneous bacterial peritonitisDoppler Ultrasound: Liver coarse echotexture: 10 cm enlarged, irregular marginPV diameter: 6.6 mm Hepatic veins and IVC patentUGI Endoscopy: Grade 1 esophageal varix
8. Workup at SGPGIFor Wilson’s Disease:S. Ceruloplasmin: <8.3 mg/dLBilateral KF Ring: positive24 hour urine copper: 623 µg/day For Autoimmune Liver Disease:ANA/SMA/LKM: negativeIgG: 3020 mg/dLHBsAg: negativeAnti-HCV antibody: negative
9. DiagnosisJaundice Firm hepatomegalyEvidence of portal hypertensionHigh transaminasesHypoalbuminemiaCoagulopathyPositive family historyLow CeruloplasminBilateral KF ring positiveHigh 24 hour urine copperChronic Liver DiseaseWilson’s disease
10. Follow-up 2010 2011 2012 2013 2014 2015 2016 2017 D-Pencillamine Supplements: Pyridoxine, Calcium, water soluble and fat soluble vitaminsAST: 277ALT: 100Alb: 2.8INR: 2.4AST: 123ALT: 77Alb: 3.2INR: 1.3AST: 74ALT: 78Alb: 4.8INR: 1.0AST: 46ALT: 38Alb: 4.8INR: 0.9AscitesAST: 64ALT: 63Alb: 4.5INR: 1.0
11. Follow-up 2010 2011 2012 2013 2014 2015 2016 2017 ASTALTALBUMININR2746474461006776382.84.54.84.82.41.01.21.1821238078565063773.23.54.23.81.31.21.00.9D-Pencillamine
12. Follow-up 2010 2011 2012 2013 2014 2015 2016 2017 D-Pencillamine Supplements: Pyridoxine, Calcium, water soluble and fat soluble vitaminsAST: 277ALT: 100Alb: 2.8INR: 2.4AST: 123ALT: 77Alb: 3.2INR: 1.3AST: 74ALT: 78Alb: 4.8INR: 1.0AST: 46ALT: 38Alb: 4.8INR: 0.9LIVER BIOPSYAST: 64ALT: 63Alb: 4.5INR: 1.0
13. Liver BiopsyDistorted lobular architecturePortal fibrosisBridging fibrosis leading to nodules formation (Cirrhosis) No evidence of any copper or copper binding protein deposition
14. Monitoring of therapy 2010 2011 2012 2013 2014 2016 D-Pencillamine Hb/TLC/Plt- normalUrine protein- nil24 hr urine copper: 623 µg Hb/TLC/Plt- normalUrine protein- nil24 hr urine copper: 1236 µgHb/TLC/Plt- normalUrine protein- nil 24 hr urine protein: 1056 µg
15. Successful story of a case of Wilson's disease wherein full clinical and laboratory recovery is observed No side effects of therapy were observed Drug compliance has been excellentOutcome of the Case
16. Key messagesWilson’s disease should be suspected in any case of chronic liver disease irrespective of duration of symptomsFamily screening should be done in all cases where there is family history of Wilson’s diseaseThis case highlights the effectiveness of specific therapy towards the complete recovery
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