Congenital Cystic Lesions of the Bile Ducts: Imaging-Based Diagnosis

Cannella, Roberto; Giambelluca, Dario; Diamarco, Mariangela; Caruana, Giovanni; Cutaia, Giuseppe; Midiri, Massimo; Salvaggio, Giuseppe

doi:10.1067/j.cpradiol.2019.04.005

Cited by 23 publications

(31 citation statements)

References 37 publications

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“…The final phenotype depends on the stage of the embryological development in which the defect occurs and from the caliber of the malformed bile ducts. 6 DPM is a feature of all hepatic fibropolycystic diseases. It affects all levels of the biliary system, ranging from the irregularly shaped bile ducts in portal tracts in bile duct hamartomas and congenital hepatic fibrosis (CHF) to the segmental, nonobstructive saccular dilatation of the larger intrahepatic ducts in Caroli's disease.…”

Section: Discussionmentioning

confidence: 99%

Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver

Menon¹,

Vij²,

Shanmugam³

et al. 2020

J Pediatr Genet

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Fibropolycystic diseases of the liver comprise a spectrum of disorders affecting bile ducts of various sizes and arise due to an underlying ductal plate malformation (DPM). We encountered a previously unreported variant of DPM, the hilar fibropolycystic disease which we diagnosed in the explant liver. A 2-year-old boy was referred for liver transplantation with a diagnosis of biliary atresia (BA) and failed Kasai portoenterostomy (KPE). He had cirrhosis with portal hypertension along with synthetic failure indicated by coagulopathy and hypoalbuminemia. The child underwent liver transplant successfully. The explant liver had fibropolycystic disease confined to the perihilar liver and hilum. No pathogenic mutation was detected by whole exome sequencing. Fibropolycystic liver disease may represent a peculiar anatomical variant, which can be diagnosed by careful pathological examination of the explant liver. The neonatal presentation of hilar fibropolycystic liver disease can be misdiagnosed as BA.

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Section: Discussionmentioning

confidence: 99%

Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver

Menon¹,

Vij²,

Shanmugam³

et al. 2020

J Pediatr Genet

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“…In our cases, the most frequent symptom was right upper quadrant pain. Non-specific biology is performed in search of cholestasis and cytolysis that may result from this condition ( [9,12]). Radiological exams are the key of diagnosis and determination of the type and associated abnormalities [12].…”

Section: Discussionmentioning

confidence: 99%

Management of Congenital Cystic Dilation of Common Bile Duct in Dakar (Senegal)

Oumar¹,

Mamadou²,

Thiam³

et al. 2019

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Congenital cystic dilatation of common bile duct is a rare condition in Africa and the West. Its discovery is often fortuitous. The diagnosis is based on imagery. Our goal was to report 3 cases followed by a literature review. Three patients were received, most often for pain of the right hypochondrium. There were 2 women and 1 man aged between 16 and 27 years old. The physical examination was normal. The abdominal CT scan allowed us to diagnose a IA Todani cyst in all patients, including one degenerate. Cholecystectomy with resection of the bile duct, followed by hepatico-jejunal anastomosis on anseen-Y of Roux was performed in 2 patients. The immediate suites were simple. Histology showed inflammation on 2 operative specimen and cholangiocarcinoma on the 3rd. Choledochal DKC is a rare condition, often revealed in adults by complications. Bilio-pancreatic CT is an alternative to cholangio-MRI for its diagnosis with a type I Todani easily recognized. The treatment is surgical with a bad prognosis in case of degeneration.

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“…Histopathology is useful for securing a de nitive diagnosis, but imaging modalities including ultrasonography (US), computed tomography (CT), and magnetic resonance imaging (MRI) remain the rst-line diagnostic methods due to their noninvasiveness and convenience [7]. Although an early diagnosis of CS is the rst step to early intervention, complication control, and surveillance, there is scarce evidence on the clinical parameters that in uence early diagnosis or how imaging and their features might in uence the diagnostic timeline of CS patients [8].…”

Section: Introductionmentioning

confidence: 99%

Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study

Shi

Huang

Feng

et al. 2020

Preprint

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Background: Caroli syndrome (CS) is a rare congenital disorder without pathognomonic clinical symptoms or laboratory findings; therefore, the diagnosis is often delayed. The objective of this study was to investigate the diagnostic delay and associated risk factors in CS patients. Methods: This was a retrospective analysis of 16 CS patients admitted to a single tertiary medical center on mainland China. The diagnostic timelines of CS patients were reviewed to demonstrate the initial findings of CS at diagnosis, the risk factors associated with diagnostic delay, and potential clues leading to early diagnosis. Results: The median diagnostic delay was 1.75 years (range: 1 month to 29 years, interquartile range: 6.2 years) in 16 enrolled CS patients. Sex, age, and initial symptoms were not associated with diagnostic delay. 87.5% of CS patients were diagnosed by imaging, and the accuracies of ultrasonography, computed tomography (CT), and magnetic resonance cholangiopancreatography were 25%, 69.2%, and 83.3%, respectively. The median diagnostic delays for patients with or without CT performed at the first hospital visited according to physician and radiologist suspicion of the diagnosis were 7.4 months and 6 years, respectively (p=0.021). Hepatic cysts with splenomegaly were detected by ultrasound in over half of CS patients. Conclusions: The majority of CS patients were not diagnosed until complications of portal hypertension had already developed. Recognition and early suspicion of the disease were important factors influencing diagnostic delay of CS. Hepatic cysts plus splenomegaly detected by US might raise the clinical suspicion to include CS in the differential diagnosis.

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Congenital Cystic Lesions of the Bile Ducts: Imaging-Based Diagnosis

Cited by 23 publications

References 37 publications

Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver

Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver

Management of Congenital Cystic Dilation of Common Bile Duct in Dakar (Senegal)

Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study

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