Grand Rounds

Caroli's disease in infancy - A report of 2 cases

Nupur Sanklecha1, Aashna Doshi1, Ira Shah2
1Seth G. S. Medical College and KEM. Hospital, Mumbai, India, 2Pediatric Gastroenterology, V Care Polyclinic, Mumbai, India

Address for Correspondence: Dr Nupur Sanklecha, Seth G. S. Medical College and KEM. Hospital, Mumbai, India. Email:

Keywords: Caroli's disease, infancy

Clinical Problem:
A 9-month-old boy born of non consanguineous marriage presented with progressive abdominal distension with prominent abdominal veins since 2 months of age. He was born at full term and had achieved milestones appropriately for age. On examination, he was malnourished (weight = 5 kg, less than 5th centile; height = 64 cm, less than 5th centile), had tachycardia (heart rate = 140/min) respiratory rate of 42/min and blood pressure of 92/60 mm of Hg. He had pallor, palmar erythema and splenohepatomegaly with dilated abdominal veins. Investigations showed hemoglobin of 8.1 gm%, WBC count of 25,400/cumm and platelet count of 4,05,000/cumm. Liver function tests are depicted in Table 1. USG abdomen showed multiple round hypoechoic areas in the liver with collaterals around liver capsule and splenomegaly. A CT abdomen showed polycystic kidneys with dilated cysts in liver (Figure 1). Serum creatinine and urine examination was normal. Thus the child was diagnosed as Caroli’s syndrome with portal hypertension and polycystic kidney disease.

Table 1. Liver function tests in the patient.
Lab parameters Patient values
Bilirubin (mg/dl) 1
Direct bilirubin (mg/dl) 0.5
SGOT (IU/L) 100
SGPT (IU/L) 46
Total protein (gm/dl) 6.5
Albumin (gm/dl) 3.5
Alkaline phosphatase (IU/dl) 2550
Prothrombin Time (sec) 32.4
Partial thromboplastin Time (sec) 46.0

Figure 1. CT abdomen showing cysts in liver and bilateral kidney suggestive of Caroli’s syndrome.

How common is Caroli’s syndrome in infancy? How to manage this case?

Previous Grand Rounds View All

Tenofovir and Hepatitis B - How to manage?
Yash Sonagra, Ira Shah
Case- A 16 years old girl was referred to us for positive serum HbsAg test. She has acute lymphoblastic leukemia diagnosed at age of nine years for which she received multiple blood transfusions. Her....
A rare cause of chest pain in a teenager - an unlikely diagnosis
Sofia Pimenta, Carolina Fraga, Manuel Ferreira, Leonilde Machado, Margarida Tavares, Joaquim Cunha
A 12-year-old female born in Syria presented to the emergency department with a history of fever and rhinorrhea for the last 2 weeks. She had been prescribed amoxicillin without improvement, and she b....
A case report of minor blood group incompatibility (anti c) in a neonate - Is there a need for routine maternal antibody screening?
S. Nithyalakshmi, P. Kumar, V. Anurekha, K.S. Kumaravel, S. Gobinathan, P. Sampathkumar
A female baby with term delivery and a birth weight of 2 kilograms was born to a 27 years old G2P1L1A0 mother by normal vaginal delivery. There was no history of blood transfusion in the motherand no....
Unilateral breast mass in a newborn
Sofia Pimenta, Teresa Cachada Baptista, João Maria Goudiaby, Fábio Barroso
A female full-term newborn, with 26 days of age, was brought to the Emergency Department for edema and right nipple redness with a 2-day evolution; the mother reported discomfort since that day. Pregn....
Fulminant Hepatic Failure in a Child with Fever and Jaundice
Hasmukh Chapsi Gala
A 7-year-old girl presented with fever for 6 days, jaundice for 5 days, vomiting and loose stools for 2 days and altered sensorium and decreased urine output for 1 day. On admission, her blood pressur....
Disclaimer: The information given by is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0