Rare variants in <i>PKHD1</i> associated with Caroli syndrome: Two case reports

Giacobbe, Carola; Dato, Fabiola Di; Palma, D. De; Amitrano, Michele; Iorio, Raffaele; Fortunato, Giuliana

doi:10.1002/mgg3.1998

Cited by 5 publications

(4 citation statements)

References 42 publications

(38 reference statements)

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“…After evaluated by imaging examinations, there is no obvious cystic lesion in the kidneys of the patient. Moreover, the child’s guardians refused genetic testing for PKHD gene ( 23 ). Of note, this case had no history of obvious abdominal pain and jaundice, which were more common symptoms in previous reports ( 6 , 24 , 25 ).…”

Section: Discussionmentioning

confidence: 99%

Childhood-onset Caroli’s disease as a cause of recurrent fever: A case report

2022

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Caroli’s disease is a rare congenital bile duct malformation characterized by intrahepatic bile duct dilatation. This kind of situation is seldom encountered in clinical work. We report such a case who presented to our emergency department with recurrent fever as initial symptom. According to the clinical manifestation and imaging examination, a 13-year-old boy was diagnosed with suppurative cholangitis and sepsis caused by Caroli’s disease. The symptoms were got relieved after antibiotic therapy upgraded from cephalosporins to carbapenems. After 5 months of follow-up, he did not have fever, abdominal pain or any other discomfort. We believe the present report is of medical significance since it serves as a reminder that Caroli’s disease may have atypical presentations and be masked by non-specific clinical findings. The report hopes to enlighten our pediatric colleagues by providing more knowledge on such rare congenital disease.

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Section: Discussionmentioning

confidence: 99%

Childhood-onset Caroli’s disease as a cause of recurrent fever: A case report

2022

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“…An individual with one working and one defective gene will be a carrier for the disease and will not develop symptoms. Consanguineous marriages, as in this patient's history, have increased chances of bearing children with a recessive condition, as in our case [1,10,11].…”

Section: Discussionmentioning

confidence: 54%

Caroli's Syndrome: A Case Report and Literature Review

Shafqat,

Memon,

Javed

et al. 2023

Cureus

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Synonymous with congenital non-obstructive saccular or fusiform intra-hepatic duct dilatation and congenital communicating cavernous ectasia of the intra-hepatic biliary tract, Caroli's syndrome (CS) is an extremely rare fibro-polycystic liver disorder characterized by ductal plate malformation and consequent peri-portal fibrosis due to segmental intra-hepatic duct dilatation. No more than 200 cases of the syndrome have been reported since 1958. CS may affect one or both lobes of the liver, but more commonly it affects the left hepatic lobe. We describe a rare case of CS localized to the right hepatic lobe in a 21-year-old male, who presented with complaints of upper gastrointestinal (GI) bleeding without any signs or stigmata of chronic liver disease. Personal as well as family history was non-significant except positive for consanguineous parental marriage. General physical examination was unremarkable except for pallor, and upper GI endoscopy revealed columns of bandable esophageal varices which led us to a line of investigations to identify the cause of portal hypertension. Blood tests were non-specific, though imaging studies chiefly abdominal ultrasound, CT abdomen and pelvis with contrast, and magnetic resonance cholangiopancreatography (MRCP) led us to confirmation of the diagnosis of CS in the right hepatic lobe with manifestations of portal hypertension as the predominant feature. Diagnosis was confirmed on liver biopsy which showed right-sided cystic dilations with congenital hepatic fibrosis.

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“…Therefore, the total absence or abnormality of this protein causes massive damage to the liver parenchyma, seen as huge cystic formations [ 1 ]. A total of 520 mutations were discovered in the PKHD1 gene, with 46 of them being the cause of CD [ 6 ]. In total, 30% of the patients who have these mutations die in the perinatal period because of respiratory failure caused by pulmonary hypoplasia, and the children who live develop kidney failure and portal hypertension [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

Caroli syndrome associated with atrial septal defect and polydactyly: a case report

Ghassa

Khouri

2023

J Med Case Reports

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Introduction Caroli disease is multifocal segmental dilatation of the large intrahepatic bile ducts that connect to the main duct. It is considered a rare disease with an incidence rate of 1 in 1,000,000 births. There are two types of Caroli: the first type is the simple type, Caroli disease, which includes only cystic dilatation of the intrahepatic bile ducts. The second is called Caroli syndrome, which consists of Caroli disease and congenital hepatic fibrosis and might lead to portal hypertension leading to esophageal varices and splenomegaly. Atrial septal defect is one of the most common congenital heart diseases, occurring when the connection between the left and the right atriums fails to close. Polydactyly is one of the most common congenital malformations of the hands and feet. It manifests in excess fingers on the hands or toes. Case presentation A 6-year-old Arab girl presented to the hospital with abdominal pain for the last month with abdominal enlargement. The patient was already diagnosed with Caroli disease and polydactyly (six fingers on each limb) when she was born. Investigations including complete blood count, blood smear, bone marrow biopsy, esophagoscopy, abdominal ultrasound, and computed tomography scan showed splenomegaly associated with hypersplenism, fourth-grade non-bleeding varices, intrahepatic cystic formations in the left and right lobes, and an atrial septal defect with a left-to-right shunt. The patient was scheduled for a splenectomy after she was vaccinated with the appropriate vaccines. After follow-up for a week in the hospital, complete blood count showed an improvement. A month after that, the patient had liver abscesses and biliary fistula that were treated appropriately and her symptoms resolved. Conclusion The association of liver diseases, polydactyly, and congenital heart diseases is extremely rare and was only documented few times in the literature. However, to our knowledge, atrial septal defect has never been part of this combination before. The family history also makes this case unique and strongly suggests genetic etiology.

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Rare variants in PKHD1 associated with Caroli syndrome: Two case reports

Cited by 5 publications

References 42 publications

Childhood-onset Caroli’s disease as a cause of recurrent fever: A case report

Childhood-onset Caroli’s disease as a cause of recurrent fever: A case report

Caroli's Syndrome: A Case Report and Literature Review

Caroli syndrome associated with atrial septal defect and polydactyly: a case report

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