1. magdy elsaadany

3. M.D Pediatrics
Ph.D Pediatric special need child health and nutrition
Consultant Pediatric
Mansoura Fever Hospital

4. Present History
14 ys old student male child
Single kid product of consangious
marriage of mod socioeconomic
status from Kafr ELshakh

5. Recurrent yellowish sclera
and dark frothy urine since
age 6 years
Complaint:

6. Patient refereed to hospital
with jaundice of olive green
color dark frothy urine with
history of yearly recurrence for
10 to 20 days

7. 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

8. 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

9. Hepatotropic viral MarkersHepatotropic viral Markers
NEGATIVENEGATIVE

10. Radiolgy
Abdominal US normal
abdominal sonar

11. What is the protocol for
hospital management

13. Hospital coures one weekHospital coures one week
Ursodeoxycholic acid
15mg/kg/day
Condition improved and
discharged
Diagnosis on discharge Benign
recurrent intrahepatic cholestasis

14. Follow
up
Patient seen after one and half year
after admission in Mostafa Kamel
Hospital in Alexandria for liver
biopsy

15. Results of liver biopsy: preserved
lobular architecture with cholestatic
changes in hepatocytes

16. Liver biopsy: histopathology
shows preserved lobular
architecture with cholestatic
changes in hepatocytes

17. Final confirmed diagnosis
Bening recurrent Intermittent
intrahepatic cholestasis

18. 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

19. 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

20. 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.

21. 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.

22. 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.

23. The biopsy showed preserved lobular architecture with marked
cholestasis within hepatocytes with mild inflammatory cell
infiltrates (Fig.1).

24. Treatment:
ttt with corticosteroids,
phenobarbitol, ursodeoxycholic
acid, cholestyramine, low fat
diet, and rifampin have all been
tried and are ineffective.

25. 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

26. Patients with BRIC 1 should be
reassured that their disease is
benign and does not progress to
chronic liver disease.
Finally: