Humans ; Infant ; Biliary Atresia/diagnosis* ; Choledochal Cyst/diagnosis* ; RNA, Circular ; Diagnosis, Differential

Extrahepatic biliary tract tumors are rare and among them rhabdomyosarcoma is most common. Rhabdomyosarcoma is a soft tissue malignant musculoskeletal tumor and is a very rare malignancy of the common bile duct in children. It usually presents as obstructive jaundice and/or pruritus. If there is no local invasion to the adjacent tissues, the radiological appearance of the tumor lesion is like a choledochal cyst. So the diagnosis is usually made at surgery or by preoperative biopsy. It is important to diagnose early and differentiate it from choledochal cyst and start treatment as early as possible for long time survival of the patient. This case report presented a case of a 10-year-old boy with recurrent onset of obstructive jaundice and fever preoperatively who was diagnosed as choledochal cyst and postoperatively as embryonal rhabdomyosarcoma of the common bile duct. After surgical resection and postoperative chemotherapy, the child had a good prognosis. So it is crucial to know that this rare tumor can mimic congenital choledochal cyst and it should be considered in the differential diagnosis of obstructive jaundice in children.
Child ; Choledochal Cyst ; Common Bile Duct/pathology* ; Diagnosis, Differential ; Humans ; Jaundice, Obstructive/etiology* ; Male ; Rhabdomyosarcoma, Embryonal/diagnosis*

PURPOSE: Choledochal cysts are congenital dilatations of the biliary tract and are generally surgically excised. Laparoscopic total excision of choledochal cysts and hepaticojejunal biliary tract reconstruction has gained acceptance among pediatric surgeons. We report our early experience with this procedure. METHODS: From May 2013 to April 2016, 10 consecutive patients (7 females and 3 males) underwent laparoscopic choledochal cyst excision and hepaticojejunostomy at our center. We retrospectively reviewed their medical records for age, sex, clinical symptoms, Todani classification, anomalous pancreaticobiliary duct union, operative time, starting day for enteral feeding, complications, and hospital stay. RESULTS: The median patient age was 22 months. Four patients were aged less than 6months, 3 of whom received prenatal diagnosis using ultrasonography. Patients presented with abdominal pain, jaundice, vomiting and fever. No abdominal mass was palpated in any patient. One patient was classified as Todani type Ia, 4 as Ic, and 5as IVa. Six patients had an anomalous pancreaticobiliary duct union. The mean operative time was 319.4 minutes. There were no surgery-related complications. Sips of water were allowed from mean postoperative day 2.4 and regular diet from mean postoperative day 3.4. The mean hospital stay was 6.5 days. CONCLUSION: Laparoscopic excision of choledochal cyst and hepaticojejunostomy in children is feasible with favorable cosmesis.
Abdominal Pain ; Biliary Tract ; Child ; Choledochal Cyst* ; Classification ; Diet ; Dilatation ; Enteral Nutrition ; Female ; Fever ; Humans ; Jaundice ; Laparoscopy ; Length of Stay ; Medical Records ; Operative Time ; Prenatal Diagnosis ; Retrospective Studies ; Surgeons ; Ultrasonography ; Vomiting ; Water

Choledochal cyst has only rarely been encountered in association with pregnancy. The clinical manifestations are nonspecific and variable that makes it difficult to differentiate from physiologic changes in pregnancy. Consequently, diagnosis is often delayed until patients present with life-threatening complications. During pregnancy, symptoms of choledochal cyst may be developed by hormonal changes and the enlarged uterus. Because of the risk of fetal mortality and maternal morbidity, definitive surgical treatment should be delayed and step-by-step management should be carefully implemented to avoid complication until delivery. Herein, we report a case of enlarged, symptomatic choledochal cyst that developed in a 26-year-old pregnant woman. The temporal relationship between pregnancy and symptom development, as well as the biliary sludge formation in the enlarged cyst, suggest that the choledochal cyst was influenced by pregnancy. In order to buy time for fetal maturation, endoscopic ultrasonography-guided choledochoduodenostomy was performed for biliary decompression as a bridge to surgical excision.
Adult ; Bile ; Choledochal Cyst* ; Choledochostomy* ; Decompression ; Diagnosis ; Endosonography ; Female ; Fetal Mortality ; Humans ; Pregnancy* ; Pregnant Women ; Uterus

PURPOSE: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. METHODS: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling. Whole exome sequencing and Sanger sequencing were performed on the patients and the family members. RESULTS: Idiopathic or viral hepatitis was diagnosed in 34%, metabolic disease in 20%, total parenteral nutrition induced cholestasis in 16%, extrahepatic biliary atresia in 14%, genetic disease in 10%, neonatal lupus in 2%, congenital syphilis in 2%, and choledochal cyst in 2% of the patients. The patient with progressive familial intrahepatic cholestasis had novel heterozygous mutations of ABCB11 c.11C>G (p.Ser4*) and c.1543A>G (p.Asn515Asp). The patient with benign recurrent intrahepatic cholestasis had homozygous mutations of ABCB11 c.1331T>C (p.Val444Ala) and heterozygous, c.3084A>G (p.Ala1028Ala). Genetic confirmation of ABCB11 spectrum liver disorder led to early liver transplantation in the progressive familial intrahepatic cholestasis patient. In addition, the atypically severe benign recurrent intrahepatic cholestasis patient was able to avoid unnecessary liver transplantation after genetic analysis. CONCLUSION: ABCB11 spectrum liver disorders can be clinically indistinguishable as they share similar characteristics related to acute episodes. A comprehensive genetic analysis will facilitate optimal diagnosis and treatment.
Biliary Atresia ; Choledochal Cyst ; Cholestasis ; Cholestasis, Intrahepatic ; Diagnosis ; Early Diagnosis* ; Exome ; Genetic Counseling ; Hepatitis ; High-Throughput Nucleotide Sequencing ; Humans ; Hyperbilirubinemia ; Jaundice ; Liver Transplantation ; Liver* ; Metabolic Diseases ; Parenteral Nutrition, Total ; Syphilis, Congenital

Choledochal cyst is a dilation that encloses the intrahepatic or both extra- and intrahepatic portions of the biliary ducts. Postnatally, ultrasonography is the initial diagnostic modality of choice, allowing for precise measurements of intra- or extrahepatic duct dilatation and identification of stones and sludge. Symptoms depend on the age at presentation. Common bile duct malformations should be considered as a differential diagnosis of a cystic mass regardless of the cyst's size or patient's age, especially in children presenting with abdominal pain, jaundice, and palpable mass. To the best of our knowledge, we report the largest choledochal cyst in infancy.
Abdominal Pain ; Child ; Choledochal Cyst* ; Common Bile Duct ; Diagnosis, Differential ; Dilatation ; Humans ; Infant ; Jaundice ; Sewage ; Ultrasonography

A choledochocele is an expanded sac of the duodenal side of the distal common bile duct (CBD), and is categorized as a type III choledochal cyst. Unlike other choledochal cysts, it can be easily overlooked because of its very low prevalence, non-specific clinical symptoms, and lack of distinctive radiological findings. However, a patient having a repeated pancreaticobiliary disorder with an unknown origin, frequent abdominal pain after cholecystectomy, or repeated non-specific gastrointestinal symptoms can be suspected as having a choledochocele, and a more accurate diagnosis can be achieved via endoscopic retrograde cholangiopancreatography (ERCP) and endoscopic ultrasound. Because it rarely becomes malignant, a choledochocele can be treated via endoscopic sphincterotomy (EST) and surgical treatment. The authors were able to diagnose choledochocele accompanied by a stone in a patient admitted to the authors' hospital due to cholangitis and pancreatitis. The patient's condition was suspected to have been caused by a distal CBD stone detected via multiple detector computed tomography and ERCP, and was successfully treated via EST.
Abdominal Pain ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangitis ; Cholecystectomy ; Choledochal Cyst* ; Common Bile Duct* ; Diagnosis ; Gallstones ; Humans ; Pancreatitis ; Prevalence ; Sphincterotomy, Endoscopic ; Ultrasonography

Anomalous union of the pancreaticobiliary duct (AUPBD) is a congenital anomaly that is defined as a junction of the bile duct and pancreatic duct outside the duodenal wall. This anomaly results in a loss of normal sphincteric mechanisms at the pancreaticobiliary junction. As a result, regurgitation of pancreatic juice into the biliary system develops and causes choledochal cysts, choledocholithiasis, cholangitis, pancreatitis and malignancy of the biliary tract. Gallbladder cancer or common bile duct cancer associated with AUPBD and choledochal cysts have been frequently reported. But, intrahepatic cholangiocarcinoma associated with this condition has been only rarely reported. Here, we report a case of intrahepatic cholangiocarcinoma associated with AUPBD and choledochal cyst.
Adult ; Bile Duct Neoplasms/*diagnosis/etiology/pathology ; *Bile Ducts, Intrahepatic ; Cholangiocarcinoma/*diagnosis/etiology/pathology ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangiopancreatography, Magnetic Resonance ; Choledochal Cyst/complications/*diagnosis ; Female ; Humans ; Positron-Emission Tomography and Computed Tomography ; Tomography, X-Ray Computed

OBJECTIVE: The aim of this study was to evaluate the frequency of postoperative biliary stricture and its risk factors in patients undergoing surgery for type I choledochal cyst. MATERIALS AND METHODS: A total of 35 patients with type I choledochal cyst underwent laparoscopic cyst excision and Roux-en-Y hepaticojejunostomy between August 2004 and August 2011. Their medical records and radiologic images (including endoscopic retrograde cholangiopancreatography, magnetic resonance cholangiopancreatography, pancreatobiliary computed tomography, or ultrasound) were retrospectively analyzed to evaluate the frequency of postoperative biliary stricture and its risk factors. RESULTS: Postoperative biliary stricture was found in 10 (28.6%) of 35 patients. It developed more frequently in patients with type Ia choledochal cyst (53.8%, 7 of 13 patients) than in patients with type Ic choledochal cyst (13.6%, 3 of 22 patients), which was statistically significant (p = 0.011). There were no significant associations between other factors and postoperative biliary stricture. CONCLUSION: Type Ia is a risk factor of postoperative anastomotic stricture. Therefore, preoperative radiologic subclassification of type Ia and Ic may be useful in predicting postoperative outcomes of choledochal cysts.
Adolescent ; Adult ; Anastomosis, Roux-en-Y ; Biliary Tract Surgical Procedures/methods ; Chi-Square Distribution ; Child ; Child, Preschool ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangiopancreatography, Magnetic Resonance ; Choledochal Cyst/*pathology/*surgery ; Female ; Humans ; Infant ; Jejunostomy/methods ; Laparoscopy/*methods ; Male ; Middle Aged ; Postoperative Complications/*diagnosis ; Statistics, Nonparametric ; Tomography, X-Ray Computed ; Treatment Outcome ; Ultrasonography/methods

OBJECTIVE: The aim of this study was to evaluate the frequency of postoperative biliary stricture and its risk factors in patients undergoing surgery for type I choledochal cyst. MATERIALS AND METHODS: A total of 35 patients with type I choledochal cyst underwent laparoscopic cyst excision and Roux-en-Y hepaticojejunostomy between August 2004 and August 2011. Their medical records and radiologic images (including endoscopic retrograde cholangiopancreatography, magnetic resonance cholangiopancreatography, pancreatobiliary computed tomography, or ultrasound) were retrospectively analyzed to evaluate the frequency of postoperative biliary stricture and its risk factors. RESULTS: Postoperative biliary stricture was found in 10 (28.6%) of 35 patients. It developed more frequently in patients with type Ia choledochal cyst (53.8%, 7 of 13 patients) than in patients with type Ic choledochal cyst (13.6%, 3 of 22 patients), which was statistically significant (p = 0.011). There were no significant associations between other factors and postoperative biliary stricture. CONCLUSION: Type Ia is a risk factor of postoperative anastomotic stricture. Therefore, preoperative radiologic subclassification of type Ia and Ic may be useful in predicting postoperative outcomes of choledochal cysts.
Adolescent ; Adult ; Anastomosis, Roux-en-Y ; Biliary Tract Surgical Procedures/methods ; Chi-Square Distribution ; Child ; Child, Preschool ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangiopancreatography, Magnetic Resonance ; Choledochal Cyst/*pathology/*surgery ; Female ; Humans ; Infant ; Jejunostomy/methods ; Laparoscopy/*methods ; Male ; Middle Aged ; Postoperative Complications/*diagnosis ; Statistics, Nonparametric ; Tomography, X-Ray Computed ; Treatment Outcome ; Ultrasonography/methods