Caroli disease is a rare congenital disorder characterized by multifocal segmental dilation of the intrahepatic bile ducts, first described in 1958 by Jacques Caroli. It is generally attributed to a genetic mutation, although an intrauterine malformation of the bile ducts causing inflammation is also discussed, as well as a recessive or dominant genetic alteration [1]-[3]. Caroli syndrome is defined as its association with congenital hepatic fibrosis; it is a cause of chronic cholestasis and intrahepatic gallstones in children and young adults [2][4]. Monolobar Caroli disease may be present at birth or remain asymptomatic until the age of 45. The left lobe is most often affected, and it is monolobar in 20% of cases (92% left and 8% right). The prevalence is estimated at 1/1,000,000 cases. It represents less than 1% of congenital cystic dilatations of the bile ducts [1][5]. We report the case of Caroli’s disease diagnosed in a 36-year-old patient in the Internal Medicine department at Donka University Hospital.

This is a 36-year-old female entrepreneur who consulted on April 20, 2023 for watery, non-mucusy and non-bloody diarrhea without tenesmus or straining more than 4 times/day, early postprandial food vomiting without triggering factors, fixed pain in the right hypochondrium of moderate intensity without triggering or relieving factors, fever, permanent dizziness, evolving for 3 months (January 10, 2023) with a history of pulmonary TB on microscopy (−) in 2016 treated and declared cured, no history of jaundice, scarification, or known liver disease. The patient had no known diabetes or hypertension, and her lifestyle did not include alcoholism or smoking. The clinical examination revealed the following parameters: Blood Pressure: 100/63 mmHg, Heart Rate: 127 Beats/min, SpO2: 97%, T = 38.2˚C, Respiratory Rate: 20 cycles/min, Fasting Blood Glucose: 1.04 g/l, Weight: 89 kg, Height: 1.80 m, BMI: 27 Kg/m².

The patient’s general condition was good, with a normal-colored conjunctiva. Physical examination revealed tenderness in the right hypochondrium without a palpable mass, hepatomegaly, or splenomegaly, and no collateral venous circulation or normal cardiorespiratory function. The rest of the examination was unremarkable. A diagnosis of amebiasis with intestinal and hepatic involvement (liver abscess) was made. She was treated with Flagyl 500 mg, Paracetamol 1 g, and 0.9% saline for 7 days of hospitalization. Without improvement, jaundice, dark urine, and normal-appearing stools developed, with no pruritus. Clinically, scleral jaundice, tenderness in the right hypochondrium, and painful hepatomegaly were noted, with a smooth surface, soft consistency, and regular lower borders. Initially, we considered cholangitis (given jaundice, fever, and pain in the right hypochondrium), obstructive cholangitis, and primary sclerosing cholangitis in the presence of incomplete clinical cholestasis syndrome (jaundice, dark urine). An ultrasound was performed, revealing heterogeneous hepatomegaly due to the presence of a biliary cyst in the right lobe and segmental dilation of the intrahepatic bile ducts. Diagnoses of cholangitis, obstructive cholangitis, and primary sclerosing cholangitis were ruled out based on ultrasound findings that suggested segmental dilation of the intrahepatic bile ducts, which were not specific to the suspected diagnoses. The diagnosis of Caroli’s disease was made based on the cholestasis syndrome and the segmental dilation of the bile ducts, suggestive of this condition.

Laboratory tests revealed cholestasis (Total Bilirubin: 2.3N and Conjugated Bilirubin: 2.3N, Alkaline Phosphatase: 1.4N, Gamma-glutamyl transferase: 1.8N) and cytolysis (Alanine Aminotransferase: 3.4N and Aspartate Aminotransferase: 4.4N). Viral markers: HBsAg (−), Total Anti-HBc (−), Anti-HCV (−). Hemoglobin: 9.7 g/dL, MCV: 88.1 fL, MCH: 31.2%, MCHC: 35.5 g/dL, Leukocytes: 23 × 10⁹/L (90.7% PMN, 5.2% Lymphocytes), Platelets: 75 G/L, Creat: 74 micromol/L, K⁺: 3.96 mmol/L, Na⁺: 143 mmol/L, Ca⁺: 2.37 mmol/L, Mg²⁺: 0.72 mmol/L. Blood Group: B−, BU negative, HIV serology negative.

The diagnosis of Caroli’s disease was made based on clinical arguments (right hypochondrium pain, fever, jaundice, vomiting, diarrhea), confirmed by abdominal ultrasound while awaiting the result of the abdominal scan.

She received 0.9% saline solution, metronidazole 500 mg, ceftriaxone 1 g, Spasfon 80 mg, paracetamol 1000 mg, and Ursolvan (ursodeoxycholic acid) 200 mg for 10 days. Her condition improved significantly, with a marked improvement in her clinical state.

Caroli’s disease is a rare entity (<1/1,000,000 in the general population) whose clinical and imaging data are studied in the literature based on small patient series (Figure 1). The clinical manifestations are not specific to Caroli’s disease, leading to diagnostic errors [1][5]. Clinical symptoms are variable, but right upper quadrant pain, fever, jaundice, pruritus, vomiting, and diarrhea are frequently observed [3]. These signs were found in our patient, which corroborates the data in the literature.

Figure 1.Abdominal-pelvic ultrasound consistent with Caroli’s disease.

Sometimes, the condition is discovered incidentally during an abdominal ultrasound or intraoperative cholangiography during cholecystectomy for gallstones; ultrasound and computed tomography allow for diagnosis [1]. In our case, we used an abdominopelvic ultrasound, which allowed us to identify this pathology in the absence of any known history of liver disease. Our limitations included the inability to perform an abdominopelvic CT scan, which would have revealed communication between the cystic spaces and the biliary tree, as well as liver biopsy and cytoculture, which were unavailable in the area. As the literature states, apart from abdominal CT scans, abdominal ultrasound can confirm the diagnosis.

The usual medical treatment involves antibiotics and bile solvents (ursodeoxycholic acid), as well as bile duct drainage techniques. Biliary drainage via endoscopic, radiological, or surgical methods is often associated with high morbidity and mortality due to infectious complications and a high recurrence rate [1][3]. The risk of developing intrahepatic cholangiocarcinoma is 100-fold increased in patients with Caroli’s disease/Caroli’s syndrome; moreover, it is very difficult to detect malignant transformation within dilated bile ducts [1][3]. She received 0.9% saline, metronidazole 500 mg, ceftriaxone 1 g, Spasfon 80 mg, paracetamol 1000 mg, and Ursolvan (ursodeoxycholic acid) 200 mg.

The evolution was favorable, with a marked improvement in his clinical condition before his discharge; the cholestasis and cytolysis levels had returned to normal, and all clinical signs had regressed, namely jaundice. The planned imaging follow-up was an abdominal scan.

Caroli’s disease is a congenital, non-obstructive dilation of the intrahepatic bile ducts. Diagnostic delays are due to the absence of specific clinical signs. Diagnosis is made by abdominal ultrasound or CT scan, which reveals asymmetrical dilation of the bile ducts.

Summary, Introduction, Methods, Results, Conclusion, Review: Dr Mamadou Diakhaby, Dr Mohamed Cissoko, and Dr Kalil Nouny Sidibé; First Proofreading: Dr Mohamed Lamine Conté, Dr Wann Thierno Amadou, Dr Bah Mamadou Lamine Yaya, Dr Aboubacar Dioubaté, Dr Lanciné Kourouma, Dr Sâa joseph Téliano, Dr Mohamed Adama Oularé, Dr Amara Magassouba, Dr Kanté Mamadou Aliou II, Dr Diallo Mamadou Tafsir, Dre Idrissa Diallo, Dr Abraham Geopogui, Dr Oumar Camara, Dr Abdourahmane Diallo, Dr Elhadj Salmana Diallo, Dr Amadou Baillo Barry, and Dr Fatoumata Bah. Second proofreading with advice: Pr Djibril Sylla and Pr Amadou Kaké. All authors have read and agreed to the published version of the manuscript.