magdy elsaadany

M.D Pediatrics Ph.D Pediatric special need child health and nutrition

Consultant Pediatric Mansoura Fever Hospital

Present History

14 ys old student male

child Single kid product of

consangious marriage of mod

socioeconomic status from

Kafr ELshakh

Recurrent yellowish sclera and dark frothy

urine since age 6 years

Complaint:

Patient refereed to hospital with jaundice of

olive green color dark frothy urine with history of yearly recurrence for

10 to 20 days

Through general and local Ex Well being patient with normal

nutritional statusNo pallor or rash only itching marks

Olive green sclera Liver span 6 cm

Spleen Np & No ascites

InvestigationHb 10.3TLC 8 000 Neu 60% –Lym 35% – Mon3% -

Es 2T S Bil 5.4DSB 4 Alk ph 690 IUALT Normal – AST Normal- GGT

NormalTotal serum protens Prothrombin Normal

Hepatotropic viral Markers Hepatotropic viral Markers NEGATIVENEGATIVE

Hepatotropic viral Markers Hepatotropic viral Markers NEGATIVENEGATIVE

RadiolgyRadiolgyAbdominal US normal abdominal sonar

What is the protocol for hospital management

Hospital coures one weekHospital coures one weekHospital coures one weekHospital coures one weekUrsodeoxycholic acid 15mg/kg/day

Condition improved and discharged

Diagnosis on discharge Benign recurrent intrahepatic cholestasis

Follow up Patient seen after one and half

year after admission in Mostafa Kamel Hospital in Alexandria for liver biopsy

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

Liver biopsy: histopathology shows

preserved lobular architecture with

cholestatic changes in hepatocytes

Final confirmed diagnosisBening recurrent Intermittent

intrahepatic cholestasis

Benign Recurrent Intrahepatic Cholestasis Benign Recurrent Intrahepatic Cholestasis Type 1 Type 1 (BRIC1): (Summerskill–Tygstrup–Walsh Syndrome)

The molecular defect of BRIC 1 is localized on the FIC1 (ATP8B1) gene

C/PC/PTypically 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

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.

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.

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.

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

Treatment:

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

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

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

Finally: