Transcript Imaging findings in congenital hepatic fibrosis.

ABSTRACT I.D – IRIA 1066
 Congenital
hepatic fibrosis (CHF) is a rare
autosomal recessive disorder that belongs to
fibropolycystic group of diseases.
 Congenital
hepatic fibrosis occurs due to ductal
plate malformations of interlobular bile ducts.
 Characterized
by periportal fibrosis and irregularly
shaped proliferating bile ducts.
 They
usually present in neonatal period. Adult
presentation is quite rare.
It presents in four forms:
--Portal hypertensive [most common] presents with esophageal varices and
hemorrhage.

--Cholangitic form is characteristic of cholestasis and recurrent cholangitis.
--Mixed and latent form in old age - incidental finding.

ASSOCIATIONS:
--Portal hypertension due to cirrhosis.
--Variceal bleeding
--Splenomegaly
--Autosomal recessive polycystic kidney disease.
-- Cholangitis
o
The condition can progress over time into cirrhosis.
ETIOLOGY:

No definite cause or causative agent identified.

Transforming growth factor-1 and thrombospondin-1 plays a role.
PATHOLOGY:

Diffuse portal and perilobular fibrosis.

Non-obstructive dilatation of intrahepatic bile ducts.

Multiacinar regenerative nodules displaying thickening of liver cell
plates and fibrous septa containing vessels.
CLINICAL FEATURES:
--Pain abdomen/ Haematemesis/ Malaena.
Signs: Hepatomegaly / Splenomegaly.
LABORATORY STUDIES:

LIVER FUNCTION TEST :
Serum alkaline phosphatase – increased.
Gamma-glutamyl transpeptidase - increased.
Alanine aminotransferase – increased.
Aspartate aminotransferase levels – increased.



COMPLETE BLOOD COUNT:
Leucopenia and thrombocytopenia in splenomegaly.
RENAL FUNCTION TEST:
Serum urea and serum creatinine – Increased.
Creatinine clearance - Decreased.
UPPER GASTRO-ESOPHAGAL ENDOSCOPY: show oesophageal
varices/erosions.
ULTRASOUND:
 Irregular liver surface with raised echo texture with lobar
hypertrophy .

Intrahepatic and extrahepatic biliary radicles dilatations.

Color Doppler ultrasonography -- shows patency and direction of
portal blood flow and varicose venous collaterals.

Splenomegaly.

Nephromegaly and increased echogenicity with polycystic changes.
COMPUTED TOMOGRAPHY:
Plain CT -- Nodular liver surface with multiple hypodense
subcentimeter round lesions located periportal in location.
Post contrast study shows
--arterial phase: multiple hyperdense lesions with marked
homogeneous enhancement.
Tangled cluster of abnormally enlarged hepatic arterial vessels
at the hilum.
--portal venous phase: dysmorphic liver with enlarged medial
and lateral segments of left lobe and an atrophic right lobe.

Cystic dilatations of intrahepatic biliary radicles

Splenomegaly

Multiple renal cysts.
MAGNETIC RESONANCE IMAGING:
MRCP –

Unusual distribution of the biliary tree with mild dilatation
peripherally and poor visibility centrally.

Numerous cystic dilatations of varying sizes are noted in the
intrahepatic biliary radicles.

Renal cysts appear T2W hyperintense.

Portal vein dilatation.
 28
year old female came with h/o-
 Abdominal
 Past
pain and vomiting -3 months.
history – Jaundice at the age of five.
 Obstetric
history – No h/o post natal jaundice.
 Not
a k/c/o Diabetes
mellitus/Hypertension/Tuberculosis.
 Family
 No
history – Nil.
previous imaging done .
Examination
General examination:
Afebrile, Vitals stable
No pallor/icterus/cyanosis/clubbing/pedal
edema/lymphadenopathy
SYSTEMIC EXAMINATION:
RS/CVS/CNS – normal.
P/A- Tenderness over right hypochondrium and epigastric region.
Mass palpable in epigastric region.
CLINICAL DIAGNOSIS-? Hepatomegaly for evaluation.
SPLEEN
•
Liver appearing heterogenous with multiple echogenic foci representing
numerous tiny cysts along the intrahepatic biliary radicles.
•
Spleno-renomegaly also noted.

NCCT –

Cystic dilatation of intrahepatic
biliary radicles (yellow and red
arrows)

Right lobe (RL) atrophy.

Left lobe (LL) hypertrophy.

Splenomegaly and bilateral
enlarged kidneys.

Recanalized umbilical vein (UV)
seen.
T2W
T2W
SPLEEN

T2W sequences showing normal right portal vein branches (RAPV & RPPV)
and thickened left portal vein (LMPV) with loss of signal void.

Numerous T2 hyperintense cystic foci (yellow arrow) scattered
throughout a coarse liver parenchyma and irregular liver contour.

Splenomegaly.
CT & MR abdomen with MRCP:

Dysmorphic liver with diffuse dilated intrahepatic biliary radicles.

Corresponding with scattered cystic foci throughout the liver in
MR, and thickening of segmental hepatic ducts.

Hepatic contour irregularity with altered parenchyma.

Portal vein thrombosis involving the left main branch .

Spleno-renomegaly.
DIAGNOSIS:

Congenital hepatic fibrosis.
OTHER POSSIBILITES:

Biliary hamartoma- no dysmorphic liver.

Caroli’s disease- multifocal cystic intra & extrahepatic biliary duct dilatation.

Primary sclerosing cholangitis- Extra- and
intrahepatic dilatation typically more fusiform
and isolated with biliary strictures and
associated inflammatory bowel disease.

The clinical manifestation of congenital hepatic fibrosis is,
however, nonspecific, which makes the diagnosis of this disorder
extremely difficult.

No specific imaging feature is known for the diagnosis of
congenital hepatic fibrosis.

Our case findings- liver morphologic changes/ associated ductal
plate abnormalities/ bilateral enlarged kidneys/ splenomegaly /
portal vein thrombosis with recanalized umbilical vein favours
CHF.

Only a few hundred patients with congenital hepatic fibrosis
have been reported.

Imaging studies could play a crucial role in the diagnosis of this
disorder

Ernst O, Gottrand F, Calvo M, et al. Congenital hepatic fibrosis: findings at MR
cholangiopancreatography. AJR Am J Roentgenol 1998; 170:409-412.

Grossman E, Rubinstein Z, Adar R, Horowitz A, Knecht A, Rosenthal
T. Computerized tomography in the diagnosis of congenital hepatic fibrosis. Isr
J Med Sci 1984; 20:37-40.

Benhamou J. Congenital hepatic fibrosis and Caroli’s disease. In: Schiff L,
Schiff E, eds. Diseases of the liver. 7th ed. Philadelphia, Pa: Lippincott Williams
& Wilkins, 1993; 1204-1209.

Bayraktar Y, Balkanci F, Kayhan B, et al. Congenital hepatic fibrosis associated
with cavernous transformation of the portal
vein. Hepatogastroenterology 1997; 44:1588-1594. [Medline]

Odievre M, Chaumont P, Montagne JP, Alagille D. Anomalies of the intrahepatic
portal venous system in congenital hepatic fibrosis. Radiology 1977; 122:427430. [Abstract] [Medline]