Gallbladder agenesis with choledochal cyst—a rare association: a case report and review of possible genetic or embryological links

Abstract

SUMMARYGallbladder agenesis is a rare congenital anomaly. Choledochal cysts are uncommon. The combination of both these entities in a 56-year-old woman is reported. A previously fit and well woman, presented to the emergency department with a 3-day history of abdominal pain. Preoperative imaging and intraoperative findings confirmed gallbladder agenesis and a type I choledochal cyst. There were no other anomalies. She underwent a resection of the choledochal cyst and reconstruction by hepaticojejunostomy. BACKGROUND

Gallbladder Agenesis in 17 Dogs: 2006–2016

“…Familial and genetic factors have been implicated in the etiology of GBA in humans . The majority of our cases were young at the time of presentation and were mainly small pure‐bred dogs.…”

“…Developmental failure of the pars cystica may lead to agenesis of the gallbladder, but it is unlikely to lead to liver abnormalities. Thus, concomitant abnormalities of the gallbladder, liver lobes, and liver parenchyma in dogs with GBA may result from a more complex developmental failure in the embryological phase, rather than pars cystica alone, which also has been documented in humans …”

“…During embryogenesis, development of the liver and gallbladder starts as the hepatic diverticulum, which divides into the pars hepatica and pars cystica. The pars hepatica develops into hepatocytes, the intrahepatic biliary system, and the CBD, whereas the pars cystica develops into the gallbladder . Earlier cases of GBA in dogs were confirmed to have liver lobe hypoplasia and malformation with portal fibrosis .…”

“…In humans, GBA is considered to be a congenital embryologic disorder and a consequence of failure of vacuolation in the pars cystica . However, GBA may result from failure of development of the hepatic diverticulum or an abnormality in concurrent development of the pars hepatica and cystica .…”

“…In humans, GBA has an incidence ranging from 0.01 to 0.065% and is often asymptomatic and diagnosed incidentally . It is considered to be an embryological disorder and possibly hereditary . However, most information about GBA in humans arises from isolated case reports and the etiology remains unclear .…”