CASE HISTORY
A Five-year-old female kid presented with complaints of multiple episodes of vomiting of fresh blood for two days and black stool for a day. There was no history of fever, jaundice, abdominal pain, loss of appetite, generalized body swelling or any previous episodes of similar blood mixed vomiting. There was no family history of any liver disease or any cystic kidney disease.
The patient was asymptomatic at the time of the presentation. However, on physical examination, she was pale and had mild abdominal distension with venous dilatations around the umbilicus. The liver was palpable upto 30cm below the right costal margin. Also, the spleen was palpable 4cm below the left costal margin and was firm and non-tender. Cardiovascular, neurological, and respiratory examinations were unremarkable. Her Blood Pressure was 120/80mmHg which was above the 99th percentile for her age and height according to the WHO chart. (99th percentile for her age and Height of 102.5cm= 114/78mmHg)
On hematological investigation, the patient had hemoglobin of 7.3gm/dl, RBC- 3.89millions/μL. Leukopenia and thrombocytopenia were evident with WBC and Platelets count of 2500/μL and 88,000/μL respectively. On peripheral Blood Smear, anisopoikilocytosis and hypochromia were seen with no evidence of any parasites. The liver function test showed an increase in the Alkaline Phosphatase level i.e 376U/L (Normal: <306U/L) with other results within the normal range. Renal function test results were within normal limits. With the background of pancytopenia, bone marrow aspiration was done which showed normocellular marrow with erythroid hyperplasia without any evidence of atypical cells, hemoparasites, or metastatic deposits.
For evaluation of upper gastrointestinal bleeding with suspected portal hypertension, upper gastrointestinal endoscopy was performed which revealed grade II esophageal varices. Ultrasonography of the abdomen showed multiple fusiform dilatation of intrahepatic biliary ducts within the right lobe of the liver. Bilateral kidney appeared echogenic with loss of cortico-medullary differentiation. Computed Tomography portogram with urography revealed multiple cystic dilatations of intrahepatic bile ducts predominantly in the right lobe of the liver, largest measuring approximately 20*14 mm in segment VIII, splenomegaly with non-visualized main portal vein and multiple collaterals in the hepatic hilum, perisplenic, peripancreatic region with esophageal, and rectal varices along with ‘central-dot’ sign in the liver. (Figure 1,2 and 3)
Similarly, bilateral renal cysts with nephromegaly were seen. (Figure 4) All findings were suggestive of Caroli’s disease with bilateral polycystic kidney disease and portal hypertension. After admission, esophageal variceal banding was done and treated prophylactically with propranolol, and ranitidine. She was started on amlodipine to control her increased blood pressure. A liver biopsy was not performed. During the hospital stay, the patient received one pint of packed RBC. She was discharged after nine days with no symptoms. She was symptom-free and doing well on follow-up after one month and was kept on a regular follow-up for monitoring the varices, blood pressure, liver and renal functions.