PaedSurg.Net

Clinical Presentation

Classical presentation of abdominal pain, jaundice and a palpable RUQ mass occurs in only 20% of cases.

1. Infantile form occurs < 12 months of age and presents with obstructive jaundice, acholic stools and hepatomegaly and signs of hepatic fibrosis. These patients may benefit from early treatment. 

2. Adult form occurs >12 months of age and can present with fever, nausea, vomiting and jaundice. It usually occurs after 2 years and can cause mucus plug and biliary sludge. 

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Perforation of choledocal cyst occurs in about 1 - 12% of patients due to fragile cyst wall, inflammation, increased ductal pressure or increased intraabdominal pressure. Site of rupture is usually the low flow region at the junction of the cystic and the common bile duct. Patient can present with peritonitis, sepsis and abdominal pain. 

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Long standing choledocal cysts can have chronic inflammation that can cuase mucus or protein plugging and is likely due to inflammation leading to formation of albumin rich exudates or dysplastic epithelium. It can also cause secondary biliary cirhosis in about 40-50% of patients due to obstruction and inflammation causing portal hypertension. 

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1. Progressive hepatic fibrosis may develop in the infant and is reversible with surgical repair.

2. Recurrent abdominal pain is the dominant presenting feature in older children with or without intermittent jaundice.

3. Portal hypertension may develop in older children because of portal vein obstruction from cyst compression or secondary biliary cirrhosis.

4. Spontaneous rupture may affect any part of the cyst and can be intraperitoneal or retroperitoneal.

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Even in the presence of pancreaticobiliary malunion, hyperamylasaemia is not found in infants with choledochal cyst. This is due to pancreatic immaturity and only reaches significant levels at about 1–2 years of age. However, biliary concentrations of pancreatic lipase, elastase and trypsin are significantly elevated in infants with a common channel. Other choices are true.

In infants, choledochal cyst needs to be distinguished from cystic varieties of biliary atresia and other intra-abdominal cysts. Ovarian cysts are usually easily distinguishable by their location in the pelvis. In the rare instance that ovarian cysts reach the size that allows them to extend into the subhepatic space, clinical details allow differentiation from choledochal cysts.

Choledochal cyst presentation has been classified as infantile and adult forms. Infants typically present with obstructive jaundice, with or without acholic stool, due to inflammation and bile stasis. Abdominal mass and vomiting may be noted. It is critical to detect cholestasis in infants and distinguish between surgical and non-surgical conditions. In addition to thorough physical examination, a hepatic panel as well as perinatal infection and metabolic workup should be investigated. Choledochal cyst may be detected by prenatal ultrasound as early as 15 weeks’ gestation. It should be differentiated from other cystic lesions within the area such as duodenal atresia, ovarian cyst, duplication cyst and, most important, cystic variants of biliary atresia. Postnatal scans of progressive enlargement of the cyst or dilatation of intrahepatic ducts are indicative of a choledochal cyst rather than biliary atresia. Affected infants who are otherwise well should be treated with early surgery to exclude biliary atresia and prevent further complication including hepatic fibrosis, cholangitis, rupture and portal hypertension. Hepatobiliary scintigraphy with technetium-99m is widely used in addition to abdominal ultrasound to provide more information in terms of function of the hepatobiliary system. A typical scan shows a filling defect in the liver followed by an increase in radioactivity uptake in the cyst. A 24-hour postinjection scan may be necessary in a jaundiced patient with obstructed biliary drainage. Plain abdominal radiography is useful in distinguishing intestinal obstruction and a routine investigation for most acute abdomen patients. Occasionally, large choledochal cysts with inflammation may depict soft tissue density on plain radiography displacing the surrounding intestines to the left.

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Clinical manifestations in the adult form generally do not become evident until after 2 years of age. Infants typically present with obstructive jaundice, vomiting, fever, failure to thrive and abdominal mass. Abdominal pain is the main presenting symptom in older children. It is this age group where the classical triad of jaundice, abdominal pain and right hypochondrial mass may be noted in 5%–10% of patients. Secondary biliary cirrhosis, compression of the portal vein by choledochal cyst or portal vein thrombosis can cause portal hypertension. Patients may present with coagulopathy, splenomegaly, haematemesis or melaena from variceal bleeding. Occasionally, portal hypertension resolves after cyst excision. Rupture can occur in up to 7% of cases and be either intraperitoneal, causing abdominal pain, distension, vomiting, fever and progressive biliary peritonitis, or retroperitoneal, which is less dramatic. At operation it must be differentiated from idiopathic perforation of bile duct with or without associated pseudocyst for defi nitive treatment. Thus, intraoperative cholangiography is recommended. Children with severe, recurrent abdominal pain should have a plasma amylase and/or lipase level measured. A careful detailed anatomical investigation with fasting abdominal ultrasound provides sufficient information about the pancreaticobiliary system and may prompt further investigation. Unexplained pancreatitis in children should be investigated in order to exclude anatomical abnormalities such as a common pancreaticobiliary channel. A dilated long common channel is often associated with choledochal cyst and complicated by acute or chronic pancreatitis from protein plugs and calculi.

Pancreaticobiliary malunion without cystic biliary dilatation has been termed a ‘forme fruste’ type of choledochal cyst. Patients with forme fruste variant of choledochal cyst may be asymptomatic, or occasionally present with obstructive jaundice and recurrent abdominal pain. Associated anomalies include inspissated bile plug, inflammatory stricture and calculi as the causes of obstruction. Although ERCP with sphincteroplasty may seem reasonable, patients with forme fruste should be treated by bile duct disconnection in a similar way to a choledochal cyst because of a high incidence of bile duct mucosal dysplasia from associated long common pancreaticobiliary channel.

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Choledochal cyst type III choledochocele is rare, representing only 1.4% of choledochal cysts, and associated with non-specific symptoms varying from asymptomatic to severe pancreatitis. It is usually intraduodenal, but occasionally it is intrapancreatic. The aetiology of choledochocele is thought to be different from other forms of choledochal cyst; it is a simple diverticulum occurring between the ampullary and common bile duct components of the sphincter or a congenital duodenal duplication that arises in the region since its lining is most commonly the duodenal mucosa. The condition should be differentiated from other more common cystic lesions within the area such as duodenal duplication, pancreatic cyst, renal cyst and retroperitoneal teratoma.

Choledochal cyst type IV is divided into two types: type IVA cysts consist of multiple dilatations of the intrahepatic and extrahepatic bile ducts, while type IVB choledochal cysts are multiple dilatations involving only the extrahepatic bile ducts. Caroli’s disease is characterised by segmental cystic dilatation of the intrahepatic bile ducts. The diagnosis depends on demonstrating the continuity of the cystic lesions with intrahepatic biliary tree, which can be done by ultrasonography, CT scan, ERCP, percutaneous transheptic cholangiography (PTC) or magnetic resonance cholangiopancreatography (MRCP). Cholangitis, biliary lithiasis, liver abscess, cirrhosis, portal hypertension and cholangiocarcinoma are its potential complications. The clinical course can be asymptomatic for the first several years or mild symptoms occur infrequently throughout the patient’s life. The majority of symptomatic cases present with recurrent fever, jaundice and/or pain in the right hypochondrium. When it coexists with congenital hepatic fibrosis, it is termed ‘Caroli’s syndrome’; patients may present with portal hypertension and its sequelae such as ascites, splenomegaly and variceal bleeding. Histological intrahepatic bile duct ectasia and proliferation are associated with severe periportal fibrosis. Clinical course may worsen because of repeated episodes of cholangitis with the presence of intrahepatic calculi, abscesses and sepsis. While localised forms confined to one lobe can be treated with hepatic lobectomy, liver transplantation is the only effective modality for diffuse forms. Although a rare disorder, Caroli’s disease should be considered in the differential diagnosis of chronic cholestasis of unknown cause.