Volume 31Number 2 July 2019
Bardet Biedl Syndrome with Choledochal Cyst: A Very Rare Case Report
Warid MM1 , Dutta A2 , Uddin MS3 , Elahi MNE4 , Das BC5
The Bardet-Biedl syndrome (BBS) is a rare genetically heterogeneous, autosomal recessive inherited ciliopathy with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, polydactyly, central obesity, mental retardation and renal dysfunction. Prevalence of this disease is 1:160 000 in North Europe, 1:13 500 in Arabs, 1:140 000 in North America population. Its diagnosis is done on the basis of genetic analysis.
Choledochal cyst is also a relatively rare congenital anomaly of bile duct. Its incidence is approximately 1:100000-1:150000 in Western countries' and high geographical variations with a reported incidence of 1:1000 in Asian populations°. Diagnosis can be made during episodes with abdominal symptoms or as an incidental finding during abdominal ultrasound. Few reportsare available on antenatal detection'.Laboratory inflammatory and cholestasis parameters, sonography, CT scan, hepatobiliaryscintigraphy with Technetium 99 (MBA), MRCP, or ERCP are helpful for the diagnosis of choledochal cyse. Combination of these two conditions are rare. Surprisingly, no such reports are available on reviewing literature of last 10 years.The only two papers to our knowledge are before 1980'.8. As it is a very rare condition and the first case of our country, we want to share our experience of management of this particular patient with special reference to perioperative course and prognosis of the patient in the light of literature review.
- Resident Student (Phase-B), Department of Hepatobiliary-Pancreatic and liver Transplant Surgery
- Assistant Professor of Radiology and Imaging
- Assistant Professor of Ilepatobiliary-Pancreatic and liver Transplant Surgery
- Assistant Professor of Hepatobiliary-Pancreatic and liver Transplant Surgery
- Associate Professor and Head of Hepatobiliary-Pancreatic and liver Transplant Surgery