This document describes the case of a 4-year-old male child presenting with itching, jaundice, and diarrhea for 3 months. He had a family history of similar cases resulting in death from liver disease. Liver tests showed elevated alkaline phosphatase. A liver biopsy showed mild degeneration and normal bile ducts. Immunostaining was positive for BSEP and MRP3. Based on the clinical features and test results, the child was diagnosed with Progressive Familial Intrahepatic Cholestasis type 1.

1. Dr. Ajay Jhaveri
Department of Gastroenterology
Jaslok Hospital & Research Centre

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 months
Progressive itching
Accompanied with jaundice, yellowish discolouration
of sclera and clay colored stools
Diarrhoea – watery stools, 5-6 / day, lasting for a
week

3.  Milestones normal
 No h/o fever
 No h/o pain in the abdomen
 No h/o intake of alternative medications

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.  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.  Cholestatic liver disease in a 4 yr child
 with a positive family history

7.  Progressive Familial Intrahepatic Cholestasis
 Bile duct paucity
 Primary Sclerosing Cholangitis
 Inborn errors of bile acid synthesis

8. Test Value Test Value
Alk Phos 587 (30-350) Hb 12 gm%
AST 52(5-40) WBC 14600
Platelets 445K
ALT 50(5-40)
Creatinine 0.5
T. Bilirubin 1.5 ( 0.2-1.3)
HBsAg Negative
D. Bilirubin 1.0 (0.1-0.8)
HIV Negative
Protein 7.9
Anti HCV Negative
Albumin 4.3
ANA Negative
AFP 15
ASMA Negative
INR 1
Anti LKM1 Negative
GGT 29

9.  Patient had a Liver biopsy 3 years ago at
another hospital and another one 6 months
before coming to us ( February 2010 ).

11.  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.

13. Expanded portal tract,
normal bile ducts
Normal hepatocytes
Mild degeneration
Courtesy Dr. Shaila Khubchandani, Jaslok Hospital

14.  Microscopy:
 Mild degeneration of the hepatocytes
 Bile ducts normal
 Expanded portal area
 Inflammatory cells
 No Bile stasis

15. BSEP stain positive GGT stain absent
Courtesy Dr. Alex Kinsley,
Kings College, U.K.
MRP 3 stain positive

16. Bile canaliculi
hepatocyte
Bile plugs (Bylers bile)
hepatocyte
Courtesy Dr. S. Khubchandani, JHRC

17.  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