Cystic Diseases of the Biliary Tract and Liver

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Chapter 357 Cystic Diseases of the Biliary Tract and Liver

Cystic lesions of liver may be initially recognized during infancy and childhood (see imageTable 357-1 on the Nelson Textbook of Pediatrics website at www.expertconsult.com). Hepatic fibrosis can also occur as part of an underlying developmental defect (see imageTable 357-2 on the Nelson Textbook of Pediatrics website at www.expertconsult.com). Cystic renal disease is usually associated and often determines the clinical presentation and prognosis. Virtually all proteins encoded by genes mutated in combined cystic diseases of the liver and kidney are at least partially localized to primary cilia in renal tubular cells and cholangiocytes.

Table 357-1 RENAL DISORDERS ASSOCIATED WITH FIBROPOLYCYSTIC LIVER DISEASES

FIBROPOLYCYSTIC LIVER DISEASE ASSOCIATED RENAL DISORDER
Congenital hepatic fibrosis (CHF) Autosomal-recessive polycystic kidney disease*
Autosomal-dominant polycystic kidney disease
Cystic renal dysplasia
Nephronophthisis
None
Caroli’s syndrome (CS) Autosomal-recessive polycystic kidney disease*
Autosomal-dominant polycystic kidney disease
None
Caroli’s disease Autosomal-recessive polycystic kidney disease
Von Meyenburg complexes (isolated) ?
Von Meyenburg complexes with CHF or CS Autosomal-recessive polycystic kidney disease
Von Meyenburg complexes with polycystic liver disease Autosomal-dominant polycystic kidney disease
Polycystic liver disease Autosomal-dominant polycystic kidney disease*
? None

* Most common associated disorders.

From Suchy FJ, Sokol RJ, Balistreri WF, editors: Liver disease in children, ed 3, New York, 2007, Cambridge University Press, p 27.

Table 357-2 SYNDROMES ASSOCIATED WITH CONGENITAL HEPATIC FIBROSIS

SYNDROME FEATURES
Jeune synrome Asphyxiating thoracic dystrophy, with cystic renal tubular dysplasia and congenital hepatic fibrosis (15q13)
Joubert’s syndrome Oculo-encephalo-hepato-renal (AH11, HPHP1)
COACH syndrome Cerebellar vermis hypoplasia, oligophrenia, congintal ataxia, ocular coloboma, and hepatic fibrosis
Meckel syndrome type 1 Cystic renal dysplasia abnormal bile duct development with fibrosis, posterior encephalocele, and polydactyly (13q13, 17a21, 8q24)
Carbohydrate-deficient glycoprotein syndrome type 1b Phosphomannose isomerise 1 deficiency (PMI)
Ivemark syndrome type 2 Autosomal-recessive renal-hepatic-pancreatic dysplasia
Miscellaneous syndromes Intestinal lymphangiectasia, enterocolotis cystic
Short rib (Beemer-Langer) syndrome
Osteochondrodysplasia

From Suchy FJ, Sokol RJ, Balistreri WF, editors: Liver disease in children, ed 3, New York, 2007, Cambridge University Press, p 931.

Choledochal Cysts

Choledochal cysts are congenital dilatations of the common bile duct that can cause progressive biliary obstruction and biliary cirrhosis. Cylindrical (fusiform) and spherical (saccular) cysts of the extrahepatic ducts are the most common types. Segmental or diffuse dilatation can be observed. A diverticulum of the common bile duct or dilatation of the intraduodenal portion of the common duct (choledochocele) is a variant. Cystic dilatation of the intrahepatic bile ducts may be associated with a choledochal cyst or Caroli disease.

The pathogenesis of choledochal cysts remains uncertain. Some reports have suggested that junction of the common bile duct and the pancreatic duct before their entry into the sphincter of Oddi might allow reflux of pancreatic enzymes into the common bile duct, causing inflammation, localized weakness, and dilatation of the duct. Other possibilities are that choledochal cysts represent malformations of the common duct or that they occur as part of the spectrum of an infectious disease that includes neonatal hepatitis and biliary atresia. Consistent with this theory, reovirus RNA has been detected in liver and biliary tissues of some infants with choledochal cysts.

Approximately 75% of cases appear during childhood. The infant typically presents with cholestatic jaundice; severe liver dysfunction including ascites and coagulopathy can rapidly evolve if biliary obstruction is not relieved. An abdominal mass is rarely palpable. In an older child, the classic triad of abdominal pain, jaundice, and mass occurs in <33% of patients. Features of acute cholangitis (fever, right upper quadrant [RUQ] tenderness, jaundice, leukocytosis) may be present. The diagnosis is made by ultrasonography; choledochal cysts have been identified prenatally using this technique. Magnetic resonance cholangiography is useful in the preoperative assessment of choledochal cyst anatomy.

The treatment of choice is primary excision of the cyst and a Roux-en-Y

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