Caroli Disease

Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review

BMC Pregnancy and Childbirth ◽

10.1186/s12884-021-03768-8 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Xiuzhen Yao ◽

Weiqun Ao ◽

Jianhua Fang ◽

Guoqun Mao ◽

Chuanghua Chen ◽

...

Keyword(s):

Pregnant Woman ◽

Magnetic Resonance ◽

Kidney Disease ◽

Portal Vein ◽

Polycystic Kidney Disease ◽

Autosomal Recessive ◽

Polycystic Kidney ◽

Left Liver Lobe ◽

Caroli Disease ◽

T1 And T2

Abstract Background Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare. Early diagnosis and intervention can improve the survival rate to some extent. This study adopted the case of a 26-year-old pregnant woman to explore the clinical and imaging manifestations and progress of CD concomitant with ARPKD to enable a better understanding of the disease. Case presentation A 26-year-old pregnant woman was admitted to our hospital for more than 2 months following the discovery of pancytopenia and increased creatinine. Ultrasonography detected an enlarged left liver lobe, widened hepatic portal vein, splenomegaly, and dilated splenic vein. In addition, both kidneys were obviously enlarged and sonolucent areas of varying sizes were visible, but color Doppler flow imaging revealed no abnormal blood flow signals. The gestational age was approximately 25 weeks, which was consistent with the actual fetal age. Polyhydramnios was detected but no other abnormalities were identified. Magnetic resonance imaging revealed that the liver was plump, and polycystic liver disease was observed near the top of the diaphragm. The T1 and T2 weighted images were the low and high signals, respectively. The bile duct was slightly dilated; the portal vein was widened; and the spleen volume was enlarged. Moreover, the volume of both kidneys had increased to an abnormal shape, with multiple, long, roundish T1 and T2 abnormal signals being observed. Magnetic resonance cholangiopancreatography revealed that intrahepatic cystic lesions were connected with intrahepatic bile ducts. The patient underwent a genetic testing, the result showed she carried two heterozygous mutations in PKHD1. The patient was finally diagnosed with CD with concomitant ARPKD. The baby underwent a genetic test three months after birth, the result showed that the patient carried one heterozygous mutations in PKHD1, which indicated the baby was a PKHD1 carrier. Conclusions This case demonstrates that imaging examinations are of great significance for the diagnosis and evaluation of CD with concomitant ARPKD.

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Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney

Pediatric Nephrology ◽

10.1007/s00467-015-3068-8 ◽

2015 ◽

Vol 30 (9) ◽

pp. 1451-1458 ◽

Cited By ~ 5

Author(s):

Jiwon M. Lee ◽

Yo Han Ahn ◽

Hee Gyung Kang ◽

II Soo Ha ◽

Kyoungbun Lee ◽

...

Keyword(s):

Intracellular Localization ◽

Caroli Disease

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Caroli Disease Associated With Vein of Galen Malformation in a Male Child

PEDIATRICS ◽

10.1542/peds.2013-0747 ◽

2014 ◽

Vol 134 (1) ◽

pp. e284-e288 ◽

Cited By ~ 2

Author(s):

D. Grieb ◽

A. Feldkamp ◽

T. Lang ◽

M. Melter ◽

C. Stroszczynski ◽

...

Keyword(s):

Male Child ◽

Vein Of Galen ◽

Vein Of Galen Malformation ◽

Caroli Disease

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Imaging in Gastroenterology ◽

10.1016/b978-0-323-55408-4.50189-0 ◽

2018 ◽

pp. 402-403

Keyword(s):

Caroli Disease

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Large-duct cholangiopathies: aetiology, diagnosis and treatment

Frontline Gastroenterology ◽

10.1136/flgastro-2018-101098 ◽

2019 ◽

Vol 10 (3) ◽

pp. 284-291 ◽

Cited By ~ 1

Author(s):

Shyam Menon ◽

Andrew Holt

Keyword(s):

Bile Flow ◽

Biliary Tree ◽

Biliary Cirrhosis ◽

Caroli Disease ◽

End Stage Liver Disease ◽

Recurrent Pyogenic Cholangitis ◽

Chronic Cholestasis ◽

End Stage ◽

Extrahepatic Biliary Tree ◽

Portal Biliopathy

Cholangiopathies describe a group of conditions affecting the intrahepatic and extrahepatic biliary tree. Impairment to bile flow and chronic cholestasis cause biliary inflammation, which leads to more permanent damage such as destruction of the small bile ducts (ductopaenia) and biliary cirrhosis. Most cholangiopathies are progressive and cause end-stage liver disease unless the physical obstruction to biliary flow can be reversed. This review considers large-duct cholangiopathies, such as primary sclerosing cholangitis, ischaemic cholangiopathy, portal biliopathy, recurrent pyogenic cholangitis and Caroli disease.

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Radionuclide hepatobiliary imaging in congenital biliary tract ectasia (Caroli disease)

Pediatric Radiology ◽

10.1007/bf00971797 ◽

1982 ◽

Vol 12 (3) ◽

pp. 111-114 ◽

Cited By ~ 7

Author(s):

J. R. Sty ◽

A. M. Hubbard ◽

R. J. Starshak

Keyword(s):

Biliary Tract ◽

Hepatobiliary Imaging ◽

Caroli Disease

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Diffuse Oligosymptomatic Caroli’s Disease: Case Report

Bangladesh Journal of Medicine ◽

10.3329/bjm.v31i2.48540 ◽

2020 ◽

Vol 31 (2) ◽

pp. 107-110

Author(s):

Lemfadli Y ◽

Bouchrit S ◽

Ait Errami A ◽

Oubaha S ◽

Samlani Z ◽

...

Keyword(s):

Case Report ◽

Female Patient ◽

Bile Ducts ◽

Clinical Case ◽

Caroli's Disease ◽

Caroli’S Disease ◽

Caroli Disease ◽

Intrahepatic Bile Ducts ◽

Disease Case

This article describes a case of Caroli’s disease in a 53-year-old female patient who complained nonspecificabdominal pain without cholestasis or cholangitis. Ultrasound and hepatic magnetic resonanceimaging showed segmental saccular dilations connected to intrahepatic bile ducts without hepaticfibrosis. This clinical case shows the possibility of having oligosymptomatic forms in the diffuse formsof Caroli disease, therefore the interest to consider this diagnosis in case of non-specific abdominalsigns and to request a hepatic ultrasound. Bangladesh J Medicine July 2020; 31(2) : 107-110

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