Caroli Syndrome is a rare genetic disorder that affects the liver. It is named after the Italian physician, Dr. Carlo Caroli. The word "Caroli" is pronounced as "kaˈroli" using the International Phonetic Alphabet (IPA). This phonetic transcription helps to accurately represent the sounds of the word. The first syllable is pronounced as "ka" with stress on the second syllable "roli". The correct spelling of the syndrome is important for accurate communication among healthcare professionals and patients. Recognition of the correct spelling can also facilitate effective research and treatment.
Caroli syndrome, also known as Caroli disease, is a rare congenital liver condition characterized by the presence of cystic dilatation or dilation of the intrahepatic bile ducts. This hereditary disorder is named after the Italian physician Jacques Caroli, who first described it in the 1950s.
Caroli syndrome is typically present at birth but its symptoms may not become apparent until later in life. It is caused by a genetic mutation that affect the normal development of bile ducts within the liver. This leads to abnormal and significant dilation of the bile ducts, resulting in the formation of cysts or saccular dilations.
Individuals affected by Caroli syndrome may experience various symptoms, which can include recurrent episodes of abdominal pain, fever, and jaundice. These symptoms are primarily related to the complications arising from the cystic dilatation and enlargement of the bile ducts, such as biliary stone formation, cholangitis (bile duct infection), or abscesses. In some cases, patients with Caroli syndrome may also develop liver fibrosis or liver cirrhosis, which can result in liver failure.
The diagnosis of Caroli syndrome is typically confirmed through imaging techniques such as ultrasound, computed tomography (CT) scan, or magnetic resonance imaging (MRI). Treatment options for this syndrome may include medical management to control symptoms and complications, antibiotic therapy for infections, or surgical intervention in more severe cases. Liver transplantation may be considered for individuals with progressive liver failure.
In summary, Caroli syndrome is a rare genetic liver disorder characterized by cystic dilatation of the intrahepatic bile ducts, which can lead to numerous symptoms and complications affecting liver function.
The term "Caroli Syndrome" is named after the Italian physician, Professor Carlo Ferdinando Della Pietra, who first described the condition in 1958. As such, the name "Caroli Syndrome" is derived from his name.