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Abdelwahb elsaadany

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Abdelwahb elsaadany

  1. 1. magdy elsaadany
  2. 2. M.D Pediatrics Ph.D Pediatric special need child health and nutrition Consultant Pediatric Mansoura Fever Hospital
  3. 3. Present History 14 ys old student male child Single kid product of consangious marriage of mod socioeconomic status from Kafr ELshakh
  4. 4. Recurrent yellowish sclera and dark frothy urine since age 6 years Complaint:
  5. 5. Patient refereed to hospital with jaundice of olive green color dark frothy urine with history of yearly recurrence for 10 to 20 days
  6. 6. Through general and local Ex Well being patient with normal nutritional status No pallor or rash only itching marks Olive green sclera Liver span 6 cm Spleen Np & No ascites
  7. 7. Investigation Hb 10.3 TLC 8 000 Neu 60% –Lym 35% – Mon3% -Es 2 T S Bil 5.4 DSB 4  Alk ph 690 IU ALT Normal – AST Normal- GGT Normal Total serum protens Prothrombin Normal
  8. 8. Hepatotropic viral MarkersHepatotropic viral Markers NEGATIVENEGATIVE
  9. 9. Radiolgy Abdominal US normal abdominal sonar
  10. 10. What is the protocol for hospital management
  11. 11. Hospital coures one weekHospital coures one week Ursodeoxycholic acid 15mg/kg/day Condition improved and discharged Diagnosis on discharge Benign recurrent intrahepatic cholestasis
  12. 12. Follow up Patient seen after one and half year after admission in Mostafa Kamel Hospital in Alexandria for liver biopsy
  13. 13. Results of liver biopsy: preserved lobular architecture with cholestatic changes in hepatocytes
  14. 14. Liver biopsy: histopathology shows preserved lobular architecture with cholestatic changes in hepatocytes
  15. 15. Final confirmed diagnosis Bening recurrent Intermittent intrahepatic cholestasis
  16. 16. Benign Recurrent Intrahepatic CholestasisBenign Recurrent Intrahepatic Cholestasis Type 1Type 1 (BRIC1): (Summerskill–Tygstrup–Walsh Syndrome) The molecular defect of BRIC 1 is localized on the FIC1 (ATP8B1) gene
  17. 17. C/PC/P Typically the disease begins with recurrent episodes of jaundice in the first decade of life that continue into adult life. Cholestatic episodes often follow a viral infection of the upper respiratory tract. and are heralded by pruritis, loss of appetite, anorexia and nausea. Nearly every other patient complains of abdominal pain
  18. 18. The jaundice lasts for 3–4 months, then spontaneously subsides, and usually recurs in approximately yearly intervals. Asymptomatic periods of several years, however, are also well documented.
  19. 19. Biochemically, A marked hyperbilirubinemia, with a moderate elevation of alkaline phosphatase and typically normal g-glutamyl transpeptidase and aminotransferase levels is observed (atypical cases without pruritus and with high serum g-GT have been reported). On cholangiography (MRCP or ERCP) the bile ducts are radiographically normal.
  20. 20. Histologically, The liver architecture is normal. A bland cholestasis, i.e. without inflammatory changes, is present (Fig.1). There is no fibrosis and the disease does not progress to cirrhosis. During clinically asymptomatic periods the histological findings are entirely normal.
  21. 21. The biopsy showed preserved lobular architecture with marked cholestasis within hepatocytes with mild inflammatory cell infiltrates (Fig.1).
  22. 22. Treatment: ttt with corticosteroids, phenobarbitol, ursodeoxycholic acid, cholestyramine, low fat diet, and rifampin have all been tried and are ineffective.
  23. 23. In patients with intense pruritis, plasmapheresis may lead to some improvement of symptoms and biochemical parameters. Although not readily understandable based on our current understanding of the pathophysiology of the disorder, a recent report describes complete and long-lasting resolution of pruritis as well as normalization of serum bile salt concentrations in cholestatic BRIC patients within 24 h. after endoscopic biliary drainage
  24. 24. Patients with BRIC 1 should be reassured that their disease is benign and does not progress to chronic liver disease. Finally:

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