Diffuse Caroli’s disease with atypical presentation: a case report
A female patient, aged 32, Caucasian, appeared to the outpatient clinic complaining of abdominal pain, that started six months ago, it was mild to moderate, continuous, recurrent, located in the upper right quadrant, relieved with simple analgesics. The patient also reported intestinal constipation, making use of laxatives, but had no fever, chills, jaundice, weight loss, nausea and/or vomiting.\nThe patient had a history of transient ischemic attack, which was investigated and attributed to an inherited thrombophilia (mutations A1298C and C677T on the methylenetetrahydrofolate reductase -MTHFR) which was treated with warfarin daily. She had a daughter with Turner syndrome (TS), but no history of abortion, liver disease or any thrombotic event in the relatives, and denied alcohol and tobacco consumption.\nThe clinical examination of respiratory, cardiovascular and gastrointestinal systems showed no significant findings. There were no jaundice, fever, no stigmata of chronic liver disease and no signs of portal hypertension.\nHematological and biochemical exams are shown in . Abdominal ultrasound showed sparse cystic anechoic formations in the liver parenchyma of about 1.1 cm. Magnetic resonance cholangiopancreatography (MRCP) () demonstrated multiple small cystic formations, with intimate anatomical relation with biliary branches. An MRI of the upper abdomen showed that such formations were randomly distributed in hepatic parenchyma ( and ).\nThe dilatation of intrahepatic biliary ducts with intimate anatomical relation with biliary branches, without cholangitis, chronic liver disease or signs of portal hypertension suggested an oligosymptomatic form of CD.\nSo far, the prognosis is favorable, since the patient has no cholangitis or no major clinical manifestations that modified her daily life.\nLiver biopsy was not performed, once the patient was using warfarin, and the procedure would bring more risks than benefits, reasons that prevent the definitive diagnosis.\nCurrently, the patient continues under clinical follow-up, with no other complaints.