Infants who present with clinically active choledochal cysts display jaundice and hepatomegaly, due to the obstruction of bile within the ducts. The condition should be promptly treated with surgical intervention, since a prolonged obstruction will lead to a cirrhotic and scarred liver, portal hypertension and ascites, as well as a considerable possibility of malignancy on the cystic wall [9].

Adult individuals who have choledochal cysts usually present with a sub-acute clinical symptomatology. The patient reports periodic jaundice, abdominal pain and occasional occurrences of cholangitis or pancreatitis, attributable either to the condition itself or the subsequent formation of gallstones [9]. 

• Fever

  A 6-year-old boy presented with repeated attacks of fever, abdominal pain, and obstructive jaundice. Clinical examination and preoperative imaging suggested the diagnosis of a type I choledochal cyst. [ncbi.nlm.nih.gov]

• Ascites

  Chylous ascites is a rare complication of abdominal surgery in children. Particularly, reports of postoperative chylous ascites are rare. [ncbi.nlm.nih.gov]

• Abdominal Pain

  Jaundice and right upper abdominal pain are the more common symptoms. [healthhype.com]

  Similarly, abdominal pain was found in 20 older children (86.95%); however, none of the infants presented with abdominal pain at diagnosis (P [ncbi.nlm.nih.gov]

  It usually presents with abdominal pain, jaundice, and a palpable right upper quadrant mass. The symptoms are more prevalent in children than in adults ( 1 ). [synapse.koreamed.org]

• Abdominal Mass

  A classic triad of abdominal pain, jaundice, and a palpable right upper quadrant abdominal mass has been described in adults with CC but is found in only 10-20% of patients. [sonographictendencies.com]

  […] pain, and the presence of an abdominal mass. [ncbi.nlm.nih.gov]

  Clinical Manifestations The triad of pain, jaundice, and abdominal mass presents in 50% of infants. Chronic intermittent abdo. pain occurs in 80% if >2yrs. Recurrent jaundice/cholangitisoccurs in 40%. Abdominal mass occurs in 15%. [gastroenterologybook.com]

• Clay-Colored Stool

  The clinical presentation was similar to that of biliary atresia in all the three infants - clay colored stool, high colored urine and icterus since birth. [jiaps.com]

  The most common symptoms are: Itchy skin Clay-colored stool Yellow skin or eyes Unexplained weight loss Fevers, chills and night sweats Abdominal pain and back pain Diagnosis of cholangiocarcinoma Bile duct cancer can be hard to diagnose. [mercy.com]

  For last two months, she also had pruritus with passage of clay colored stools. There was no previous history of acute cholecystitis, pancreatitis, hematemesis or melena. [ijcasereportsandimages.com]

  Acholic stools (clay-colored stools) − because no bile or bilirubin coloring is being emptied into the intestine. Also, the abdomen may become swollen from a firm, enlarged liver. [cincinnatichildrens.org]

  Babies or children with a choledochal cyst may have these symptoms: Yellow color to the eyes and skin (jaundice) Pain in the upper-right belly (upper-right-quadrant pain) Soft mass that can be felt in the upper-right belly Pale or clay-colored stools [seattlechildrens.org]

• Epigastric Pain

  The report presents a rare case of carcinoid tumor in a 17 year female who presented with epigastric pain of one week duration. She was diagnosed to have type I choledochal cyst on abdominal ultrasound and MRI. [ncbi.nlm.nih.gov]

  We report a case of a 27-year-old woman who was admitted with epigastric pain. She described several episodes of fever with icterus spontaneously resolved. Physical examination revealed a patient without jaundice. [em-consulte.com]

  A 36-year-old man with obstructive jaundice and epigastric pain was referred to the authors hospital. Blood tests showed direct hyperbilirubinemia and elevated ALP. [jmatonline.com]

  Three other patients in group E developed occasional epigastric pain and responded to omeprazole. Endoscopy was done in all three patients but none of them had significant gastritis. [jiaps.com]

• Failure to Thrive

  Van Craynest, M P De Meyer, R The authors report the case of a 2-year-old girl with hepatomegaly and failure to thrive in whom the diagnosis of congenital hepatic fibrosis was first considered on the basis of the histological examination of a percutaneous [dial.uclouvain.be]

  Older children present with failure to thrive, recurrent cholangitis, and palpable mass in various combinations. Uncommon presentations include spontaneous perforations and portal hypertension. [ncbi.nlm.nih.gov]

  In a recent study of growth indices in our series of over 100 operated CMs, we found a significant incidence of failure to thrive and lower preoperative weights when compared with the age-corrected normal population. [samj.org.za]

  These conventional presentations can be sometimes heralded by chollangitis, malnutrition, and failure to thrive in some category of patients with delayed presentation. [omicsonline.org]

• Jaundice

  CC may also presents in adulthood with the most common symptom of epigastric or right upper quadrant pain which can progress to jaundice and cholangitis. [sonographictendencies.com]

  Jaundice and right upper abdominal pain are the more common symptoms. [healthhype.com]

  It usually presents with abdominal pain, jaundice, and a palpable right upper quadrant mass. The symptoms are more prevalent in children than in adults ( 1 ). [synapse.koreamed.org]

  Hemobilia with jaundice as a result of cholestasis and bleeding from choledochal cyst is uncommon. [ncbi.nlm.nih.gov]

• Biliary Colic

  Pain may mimic biliary colic. Neonates frequently present with biliary obstruction, whereas older youths suffer from jaundice and abdominal pain. Rarely, pancreatitis or duodenal obstruction can be caused by a choledochocele. [patient-help.com]

  Gibbs et al. reported a case which was almost similar to our case in which a Hispanic female presented with classic findings consistent with biliary colic. [ispub.com]

• Gallbladder Enlargement

  The inability to visualize the gallbladder, gallbladder enlargement, the presence of gallbladder sludge and of pebblelike stones, and dilatation of the intrahepatic ducts were also noted on ultrasound. [ncbi.nlm.nih.gov]

• Murphy's Sign

  On clinical examination there was no palpable mass: Murphy’s sign was positive. Oral cholecystogram showed non-functioning gall bladder. On laparotomy an inflamed gall bladder was found for which cholecystectomy was done. [jpma.org.pk]

• Pruritus

  The patient was a 52-year-old man, hospitalized for the investigation of jaundice and pruritus. Abdominal computed tomography and magnetic resonance cholangiopancreatography showed a huge choledochal cyst and distal common bile duct cancer. [ncbi.nlm.nih.gov]

  There will be other features of obstructive jaundice as pale stools, dark urine, pruritus [7]. [explainmedicine.com]

  The patient is a 28-year-old woman referred to our clinic for pruritus. Laboratory data showed mild elevation of serum hepatobiliary enzymes. [internationalsurgery.org]

  For last two months, she also had pruritus with passage of clay colored stools. There was no previous history of acute cholecystitis, pancreatitis, hematemesis or melena. [ijcasereportsandimages.com]

• Irritability

  Scientists believe there may be a link between chronic irritation or inflammation of the bile duct and the development of cholangiocarcinoma. [moffitt.org]

  The problems arising in the bile duct, which may or may not be due to the manifestation of cancer, such as irritation, inflammation, or any obstruction, cause dilemma in the digestive system or jaundice or lead to chronic diseases and produce parasitic [news-medical.net]

  […] navel discharge for months, which I have had a irritating navel discharge for months, which causes irritation to surrounding tissue and crusts while sleeping overnight, to the degree that "chunks" are present some mornings. [justanswer.com]

  It's caused by irritants like alcohol and diseases like hepatitis. Studies have found it raises the risk of bile duct cancer. Infection with hepatitis B virus or hepatitis C virus which increases the risk of intrahepatic bile duct cancers. [cancer.org]

  Weight loss and irritability − develop when the level of jaundice increases. Jaundice may be present with other liver disorders, so several tests are needed to get the correct diagnosis. [cincinnatichildrens.org]

• Agitation

  Risks of aspiration, postoperative nausea or vomiting, sore throat, emergence agitation, and shivering. Risk of malignant hyperthermia on exposure to triggering agents. Airway concerns: Possible difficult airway and risk of aspiration. 6. [clinicaladvisor.com]

The first step towards a successful diagnosis is, as always, a detailed medical history. The patient is expected to present with a clinical picture compatible with that of biliary obstruction (abdominal pain, jaundice, hepatomegaly etc.).

Diagnostically speaking, no laboratory tests can be used to accurately diagnose the condition. A complete blood count may show markers of inflammation, such as increased levels of neutrophils, and liver function tests can be used to evaluate hepatic functionality as a whole. Amylase and lipase blood levels indicate the presence of pancreatitis, if found elevated.

Imaging techniques, on the other hand, greatly contribute to the diagnosis of a choledochal cyst. Ultrasonography is an excellent method of choice, as it is non-invasive and allows for the detection of such a distention, even before birth [10]. Caroli disease can also be diagnosed before birth with the use of ultrasonography [11]. A CT or MRI scan can further illustrate the exact anatomical location of a cyst and its particular characteristics. More specifically, MRCP (magnetic resonance cholangiopancreatography) has been proven a great, non-invasive tool for the detection of defective pancreatobiliary junctions in patients who present with choledochal cysts [12].

Regarding invasive diagnostic methodology, if all the aforementioned techniques fail to produce accurate results, endoscopic retrograde cholangiopancreatography (ERCP) or percutaneous transhepatic cholangiography may also be performed [13].

Choledochal cysts are surgically treated and should be completely excised. In addition, conservative, antibiotic treatment should be applied in the scheme for patients suffering from cholangitis or other complications.

Generally, almost every patient who presents with choledochal cysts should undergo a complete removal of the latter, followed by a new junction between the biliary duct and duodenum (anastomosis) [14]. The sub-category of patients also suffering from portal hypertension usually are discouraged from surgical procedures, because of the increased mortality rates and morbidity associated with their condition. Also, patients with Caroli disease usually undergo not an excision of the entire cyst, but a hepatic lobectomy, provided that the liver's functionality has been evaluated. In cases where the cyst is adjoined to the portal vein and complete surgical resection is not possible, a surgeon will remove the mucosal layer of the cyst in order to eliminate the possibilities of cancerous tumor. Its serosal part is left intact. 

Patients are expected to fully recover, once the dilatations have been surgically removed. Prognosis worsens when poor markers are present, such as old age, comorbidities etc. The only late complication worsening the prognosis involves the slight possibility of cancerous tumors, due the inadequate removal of the cyst or a previously undetected malignant condition. Still, the incidence of malignancy amounts to 0.7%-0.8% [8].

The precise cause which leads to the formation of choledochal cysts has yet to be determined. The condition is generally categorized under the wider group of diseases called fibropolycystic disorders. Specifically, Caroli disease and cysts that belong to type IVA are viewed as ductal plate abnormalities.

A defective junction between the pancreatic and biliary duct is believed to predispose an individual to choledochal cysts, due to the frequent reflux of pancreas-derived juice into the biliary duct [2]. A defective sphincter of Oddi, the anatomical structure that prevents bile and pancreatic fluids from refluxing from the duodenum into the biliary duct has also been incriminated for the same reasons [3]. A theory has also been suggested, stating that a malfunction of the autonomic nervous system could be the culprit behind choledochal cysts [4]. Researchers detected significantly diminished numbers of ganglia on the bile ducts of patients presenting with choledochal cysts, in comparison to individual who suffered from some type of mechanical obstruction.

Distentions of the biliary tree are usually diagnosed during childhood [5]. The condition itself is rare, with an incidence estimated at 1:100,000 to 1:150,000 live births. Women appear 4 times more frequently affected than men and there seems to be a growing incidence in the regions of East Asia.

The exact pathophysiological mechanisms involved in the initial stages of the condition remain unknown due to the unclear etiology of choledochal cysts. It is safe, however, to assume that more than one factors are implicated in the condition's pathogenesis [6].

It is believed that choledochal cysts are formed as a result of pancreatic enzymes refluxing into the biliary tree. A study examined patients who presented with choledochal cysts and discovered that almost every single patient displayed some anomaly in the region where the pancreatic and biliary duct are adjoined [7]. A dysfunctional junction leads to reflux of the bile-pancreatic fluids mixture back into the biliary tree, whose epithelium is not suitable to host pancreatic secretions. The latter damage the biliary ducts, which are also believed to be congenitally weaker than those of healthy individuals; as a result, cystic dilatations emerge. 

The formation of choledochal cysts cannot be prevented.

Bile fluid is produced by the liver. It initially flows within the intrahepatic ducts, which, upon exiting the liver, form the left and right hepatic ducts. They merge to form the common hepatic duct, which is joined with the cystic duct (emerging from the gallbladder) to form the common hepatic duct. The latter is joined with the pancreatic duct; thus, bile and pancreatic enzymes are released into the duodenum for digestive purposes in the ampulla of Vater.

Choledochal cysts are distentions of the bile ducts. It is a congenital condition. The defect is attributable to an unknown cause, which leads to the malformation of the ducts during fetal development. Their classification primarily centers on whether they are a regional distention or a structure separated from the duct itself. A further criterion assesses the location of the dilatations.

Classification of choledochal cysts [1]:

Type I: up to 90% of choledochal cysts are categorized under type I. It encompasses 3 subtypes:

• IA: the entire length of the extrahepatic duct is distended.
• IB: a section of the extrahepatic duct is distended.
• IC: only the common bile duct is distended.

Type II: the distention is viewed as a separate structure from the extrahepatic duct (diverticulum).

Type III: The extrahepatic duct is distended in the region of its junction with the duodenum. This is also known as a choledochocoele.

Type IV: Secondarily to type I, type IV is the next common manifestation of a choledochal cyst. Subtypes include:

• IVA: several locations on the intra- and extrahepatic ducts are distended.
• IVB: several distinct locations of the extrahepatic duct are distended.

Type V: otherwise known as Caroli disease. Multiple distentions appear on the intrahepatic ducts.

A theory suggests that choledochal cysts are formed due to malformations in the pancreatobiliary junction or the sphincter of Oddi. These malformations lead to the reflux of fluids from the duodenum to the biliary tree, which is not accustomed to their presence; therefore, it becomes distended. Choledochal cysts are diagnosed non-invasively most of the times, with the help of an ultrasonographic scan, a computerized tomography (CT) scan or a magnetic resonance imaging (MRI) scan. Should these modalities fail to produce a trustworthy, accurate diagnosis, invasive techniques may also be used with caution, such as endoscopic retrograde cholangiopancreatography (ERCP). Choledochal cysts are surgically treated and prognosis is remarkable, given that serious comorbidities do not exist.

The bile ducts are channels that begin from the inner part of the liver and follow a route to the duodenum, a part of the small intestine. They are responsible for carrying bile, a fluid produced in the liver, to the small intestine, so as for digestion to take place.

Choledochal cysts are parts of the bile duct that are distended, like a pouch. A person is born with this abnormality and the causes are unknown.

Typical symptoms involve occasional pain and/or swelling in the abdomen, a yellow skin color (jaundice), peritonitis or cholangitis. Cysts are diagnosed most frequently with an ultrasound scan, but a CT/MRI scan, as well as blood tests. In more difficult-to-diagnose cases, an MRCP (magnetic resonance cholangio-pancreatography) or ERCP (endoscopic retrograde cholangio-pancreatography) may be performed. The treatment of choice is a complete surgical removal of the cyst, since other methods have not proven beneficial for the patients on the long term. Patients who have Caroli disease, a sub-category of choledochal cysts found within the liver, will need to have a part of their liver removed. Any individual who presents with cholangitis, i.e a critical bacterial inflammation of the biliary tree, is necessarily treated with antimicrobials prior to any type of surgical intervention.

Another category of patients, who do not usually receive surgical treatment, is patients who are diagnosed at a progressed stage of the condition, when liver cirrhosis or portal hypertension have already manifested. These patients run a higher risk of complications or death and are therefore not treated surgically as a rule.

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