Dr. Ajay Jhaveri  Department of GastroenterologyJaslok Hospital & Research Centre
 4yrs male child, 3rd born of non consanguineous  marriage Presented in Oct 2010 :    Itching since 3 months   ? Jaundic...
   Milestones normal   No h/o fever   No h/o pain in the abdomen   No h/o intake of alternative medications
   Patient had 2 elder brothers who expired at    the age of 5 years and 9 years.   Both presented with•    severe itchi...
   Vitals – Normal.   No dysmorphic facies   No Pallor, icterus, cyanosis, clubbing,    lymphadenopathy and edema feet...
   Cholestatic liver disease in a 4 yr child   with a positive family history
   Progressive Familial Intrahepatic Cholestasis   Bile duct paucity   Primary Sclerosing Cholangitis   Inborn errors ...
Test           Value              Test         ValueAlk Phos       587    (30-350)    Hb           12 gm%AST            52...
   Patient had a Liver biopsy 3 years ago at    another hospital and another one 6 months    before coming to us ( Februa...
   Treatment offered – Operation done –    CHOLECYSTO-JEJUNO CUTANEOUS STOMA   Post op period:   intermittent diarrhoea...
Expanded portal tract,                                                    normal bile ductsNormal hepatocytes             ...
   Microscopy:   Mild degeneration of the hepatocytes   Bile ducts normal   Expanded portal area   Inflammatory cells...
BSEP stain positive          GGT stain absentCourtesy Dr. Alex Kinsley,Kings College, U.K.                                ...
Bile canaliculihepatocyte                    Bile plugs (Bylers bile)                                       hepatocyte    ...
   4 year male child with cholestatic liver    disease   with raised alkaline phosphatase   normal GGT   with positive...
Progressiv familial intrahepatic cholestasis type 1 case presentation
Progressiv familial intrahepatic cholestasis type 1 case presentation
Progressiv familial intrahepatic cholestasis type 1 case presentation
Progressiv familial intrahepatic cholestasis type 1 case presentation
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Progressiv familial intrahepatic cholestasis type 1 case presentation

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Progressiv familial intrahepatic cholestasis type 1 case presentation

  1. 1. Dr. Ajay Jhaveri Department of GastroenterologyJaslok Hospital & Research Centre
  2. 2.  4yrs male child, 3rd born of non consanguineous marriage Presented in Oct 2010 : Itching since 3 months ? Jaundice since 3 months Intermittent diarrhoea since 3 monthsProgressive itching Accompanied with jaundice, yellowish discolouration of sclera and clay colored stoolsDiarrhoea – watery stools, 5-6 / day, lasting for a week
  3. 3.  Milestones normal No h/o fever No h/o pain in the abdomen No h/o intake of alternative medications
  4. 4.  Patient had 2 elder brothers who expired at the age of 5 years and 9 years. Both presented with• severe itching with a traumatic cataract in one of them,• stigmata of chronic liver disease disease in form of ascites, jaundice and expired due to end stage liver disease Mother also had an abortion and a neonate who expired within 12 hrs of birth before patient was born
  5. 5.  Vitals – Normal. No dysmorphic facies No Pallor, icterus, cyanosis, clubbing, lymphadenopathy and edema feet Scratch marks ++ No stigmata of chronic liver disease Height and weight were below the 5th percentile ( 10.5 kgs, 89 cms ) Abdominal examination- firm hepatomegaly approximately 1.5 cms below the subcoastal margin Rest systemic exam – normal
  6. 6.  Cholestatic liver disease in a 4 yr child with a positive family history
  7. 7.  Progressive Familial Intrahepatic Cholestasis Bile duct paucity Primary Sclerosing Cholangitis Inborn errors of bile acid synthesis
  8. 8. Test Value Test ValueAlk Phos 587 (30-350) Hb 12 gm%AST 52(5-40) WBC 14600 Platelets 445KALT 50(5-40) Creatinine 0.5T. Bilirubin 1.5 ( 0.2-1.3) HBsAg NegativeD. Bilirubin 1.0 (0.1-0.8) HIV NegativeProtein 7.9 Anti HCV NegativeAlbumin 4.3 ANA NegativeAFP 15 ASMA NegativeINR 1 Anti LKM1 NegativeGGT 29
  9. 9.  Patient had a Liver biopsy 3 years ago at another hospital and another one 6 months before coming to us ( February 2010 ).
  10. 10.  Treatment offered – Operation done – CHOLECYSTO-JEJUNO CUTANEOUS STOMA Post op period: intermittent diarrhoea still persists Itching has been almost completely relieved Has gained 3 kg weight and 7 cms height but is still below the 5th percentile.
  11. 11. Expanded portal tract, normal bile ductsNormal hepatocytes Mild degenerationCourtesy Dr. Shaila Khubchandani, Jaslok Hospital
  12. 12.  Microscopy: Mild degeneration of the hepatocytes Bile ducts normal Expanded portal area Inflammatory cells No Bile stasis
  13. 13. BSEP stain positive GGT stain absentCourtesy Dr. Alex Kinsley,Kings College, U.K. MRP 3 stain positive
  14. 14. Bile canaliculihepatocyte Bile plugs (Bylers bile) hepatocyte Courtesy Dr. S. Khubchandani, JHRC
  15. 15.  4 year male child with cholestatic liver disease with raised alkaline phosphatase normal GGT with positive family history with positive BSEP and MDR3 staining is Progressive Familial Intrahepatic cholestasis type 1

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