scholarly journals Epehólyag-agenesia. Epekövességet utánzó ritka rendellenesség egy felnőtt nőben

2019 ◽  
Vol 160 (38) ◽  
pp. 1510-1513
Author(s):  
Călin Molnar ◽  
Tibor Sárközi ◽  
Cedric Kwizera ◽  
Marian Botoncea ◽  
Opriș Zeno ◽  
...  

Abstract: Gallbladder agenesis is a rare congenital malformation due to an embryological defect of the biliary system. In most cases it is asymptomatic, but it can also mimic biliary colic. We report the case of a 72-year-old Caucasian woman with a medical history of cardiovascular disease and hypercholesterolemia, under cholesterol-lowering and hypotensive treatment, who presented symptoms suggesting biliary colic. She underwent laparoscopic surgery that confirmed the final diagnosis. We present our approach in this rare case as well as a brief review of medical literature. The surgeon should decide intraoperatively whether to continue and search for a possible ectopic gallbladder or investigate further with imaging studies. Gallbladder agenesis is a rare condition that the surgeon must be aware of. In the cases of inconclusive or indirect signs of cholelithiasis, the best approach is complementary imaging investigations such as magnetic resonance cholangiopancreatography in order to avoid surgery. Orv Hetil. 2019; 160(38): 1510–1513.

2021 ◽  
pp. 000313482110604
Author(s):  
Maryselle Winters ◽  
Derek T. Clar ◽  
Kelly Van Fossen

Gallbladder agenesis is a congenital anomaly that often presents with symptoms of biliary colic. Due to the rarity of this condition, it is often difficult to diagnose pre-operatively. Here we present a case of a 33-yo female with a 6-month history of right upper quadrant abdominal pain and associated nausea. With false-positive imaging findings of cholelithiasis on ultrasound examination, an incidental intraoperative diagnosis of gallbladder agenesis was made during a routine elective laparoscopic cholecystectomy. This finding was confirmed with postoperative magnetic resonance cholangiopancreatography. The primary aim in reporting this case is to further promote awareness of this rare condition out of concern for increased risk of iatrogenic operative injury in the setting of a condition where conservative management is recommended.


2021 ◽  
Vol 108 (Supplement_9) ◽  
Author(s):  
Rory Hammond ◽  
Thahesh Tharmaraja ◽  
Daniel Bell ◽  
Venugopala Kalidindi

Abstract Background Gallbladder agenesis (GBA) is a well-recognised, yet rare embryological malformation, that is thought to stem from a failure of the gallbladder and cystic duct to bud from the common bile duct in the 5th week of gestation. The anomaly has an estimated incidence of 10-65 per 100 000 and is often an incidental finding. A quarter of those affected are symptomatic, often presenting in a similar manner to cholecystitis or choledocholithiasis. There is a lack of awareness and guidance on its investigation and management, making GBA a diagnostic challenge, which often leads to unnecessary high-risk surgical exploration. Methods A 64-year-old man presented with right upper quadrant abdominal pain, fevers, jaundice and persistent vomiting. On examination he was confused, visibly jaundiced and septic with deranged liver function tests. An initial ultrasound scan of the abdomen revealed dilated common bile ducts, with no evidence of choledocholithiasis, however, a gallbladder could not be identified. Magnetic resonance cholangiopancreatography confirmed a ‘post-cholecystectomy’ picture, despite no history of abdominal surgery. This led us to the diagnosis of gallbladder agenesis. Results There are no dedicated guidelines regarding the investigation and management of GBA. Efforts have been made to stratify the diagnostic imaging of GBA. Malde et al suggest that if the gallbladder is not visualised on USS, the next most appropriate investigations in order of accuracy are MRCP, CT and ERCP, respectively. Interestingly, they further suggest that if results of imaging remain inconclusive, they should be repeated again once the acute phase of the illness or symptoms have resolved. Inadvertently, this suggestion was applied in our case, as the patient underwent a repeat MRCP following the resolution of his acute symptoms. In our case, MRCP allowed an effective final diagnosis, avoiding unnecessary investigations and exploratory surgery. It also provided a detailed anatomical picture, excluding the possibility of an ectopic gallbladder.  Conclusions The present case accentuates the importance of non-invasive imaging such as MRCP in appropriately diagnosing this phenomenon and avoiding unnecessary operative exploration. 


2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Nahla Elzubeir ◽  
Kevin Nguyen ◽  
Muhammad Nazim

Introduction. Gallbladder agenesis (GA) is a rare congenital malformation, and majority are asymptomatic; however, symptomatic patients present with a clinical picture similar to biliary colic. Work up usually shows contracted gallbladder (GB) on ultrasound (US), and HIDA scan shows nonvisualization. Magnetic resonance cholangiopancreatography (MRCP) can be helpful in the diagnosis; however, the diagnosis without the latter can only be established intraoperatively. Management should be conservative treatment with antispasmodic drugs. Case Report. A 35-year-old female presented to the emergency department with nausea, vomiting, and worsening right upper quadrant (RUQ) abdominal pain. Vitals and laboratory values were unremarkable except for mild leukocytosis, and RUQ US reported “contracted GB, cholelithiasis, 4.2 mm wall thickness, and no ductal dilation.” Surgical consultation was prompted by the diagnosis of acute cholecystitis. The patient was transferred to the operating room for laparoscopic cholecystectomy; however, no GB was found, which was confirmed by intraoperative indocyanine green cholangiography. The procedure was aborted. Postoperatively, CT scan showed absent GB. A HIDA scan showed nonvisualization of the GB after 4 hours. Gastroenterology consultation was suggested to assess for peptic ulcer disease, stricture, or other etiology for her presenting symptoms, and the upper endoscopy showed gastritis. Upper GI with small bowel follow-through study showed mild delayed gastric emptying and contrast in the colon in 45 minutes. Conclusion. When US imaging findings are equivocal for nonvisualization of GB in a patient with no known history of prior cholecystectomy, additional imaging is required considering the diagnosis of gallbladder agenesis. MRCP is the test of choice. Management is usually conservative with smooth muscle relaxants without the need for surgical operation.


2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Nonso Osakwe ◽  
Diane Johnson ◽  
Natalie Klein ◽  
Dalia Abdel Azim

Background. Hemophagocytic lymphohistiocytosis (HLH) is a rare condition associated with viral infections including HIV. Cases have been reported mainly in advanced HIV/AIDS. This is a rare case that reports HLH associated with human herpes virus-8 (HHV-8) associated multicentric Castleman disease in a stable HIV patient. Case Presentation. A 70-year-old Asian male patient with history of stable HIV on medications with CD 4 cell count above 200 presented with cough and fever and was initially treated for pneumonia as an outpatient. Persisting symptoms prompted presentation to the hospital. The patient was found to have anemia which persisted despite repeated transfusion of packed red cells. A bone marrow biopsy to investigate anemia revealed hemophagocytosis. A CT scan revealed multiple enlarged lymph nodes and hepatosplenomegaly. An excisional lymph node biopsy revealed HHV-8 associated multicentric Castleman disease. The patient deteriorated despite initiation of treatment. Conclusion. HLH can occur at any stage of HIV, rapid diagnosis to identify possible underlying reactive infectious etiology and prompt initiation of treatment is crucial to survival.


2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Abdullah A. Alarfaj ◽  
Ali R. AlHayek ◽  
Rashid Alghanim ◽  
Nasser A. Al-Jazan

Traumatic macroglossia is an extremely rare condition characterized by a sudden edematous swelling of the tongue due to trauma. We report a rare case of traumatic macroglossia in a 37-year-old male with known trisomy 21 and epilepsy who presented to the emergency room with a huge protruded tongue due to aggressive behavior and a history of multiple tongue tractions, leading to sudden severe tongue swelling without any respiratory distress symptoms. The examination was unremarkable; fixable nasolaryngoscopy relieved bilateral vocal cord movement, and there was no laryngeal edema. The patient was managed immediately by endotracheal intubation to secure the airway, and corticosteroids were used to diminish and stop the tongue swelling. We describe the clinical management for such patients, highlighting the different causes of traumatic macroglossia. A few cases have been reported in the literature, but this is the first case to report self-induced traumatic macroglossia in a seizure-free patient managed successfully by endotracheal intubation, corticosteroids, a bite block, and warm wet dressing.


2019 ◽  
Vol 10 (02) ◽  
pp. 327-330 ◽  
Author(s):  
Vivek Mahesh Agrawal ◽  
Pramod Janardhan Giri

ABSTRACTIsolated sellar tuberculoma is a very rare condition and usually presents with headache and decreased vision. It can present with panhypopituitarism with 3rd nerve palsy. Tuberculoma mimics pituitary adenoma clinically as well as radiologically and requires endoscopic transsphenoidal surgery and histopathological examination for the final diagnosis. We present a rare case of a 40-year-old female presented with headache, decreased vision, and unilateral 3rd nerve palsy with panhypopituitarism.


2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Cemil Goya ◽  
Mehmet Serif Arslan ◽  
Alpaslan Yavuz ◽  
Cihad Hamidi ◽  
Suzan Kuday ◽  
...  

Cystic duct cysts are a rare congenital anomaly. While the other bile duct cysts (choledochus and the intrahepatic bile ducts) are classified according to the classification described by Tadoni, there is no classification method described by the cystic duct cysts, although it is claimed that the cystic duct cysts may constitute a new “Type 6” category. Only a limited number of patients with cystic duct cysts have been reported in the literature. The diagnosis is usually made in the neonatal period or during childhood. The clinical symptoms are nonspecific and usually include pain in the right upper quadrant and jaundice. The condition may also present with biliary colic, cholangitis, cholelithiasis, or pancreatitis. In our case, the abdominal ultrasonography (US) performed on a 6-year-old female patient who presented with pain in the right upper quadrant pointed out an anechoic cyst at the neck of the gall bladder. Based on the magnetic resonance cholangiopancreatography (MRCP) results, a cystic dilatation was diagnosed in the cystic duct. The aim of this case-report presentation was to discuss the US and MRCP findings of the cystic dilatation of cystic duct, which is an extremely rare condition, in the light of the literature information.


2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Masanori Kudoh ◽  
Ken Omura ◽  
Arata Satsukawa ◽  
Koshi Matsumoto ◽  
Takahide Taguchi ◽  
...  

Symmetric lipomatosis is definitively characterized by symmetric, tumorous lipomatous proliferation of adipose tissue that often develops in the head and neck, shoulders, and upper trunk. However, in the oral region, symmetric lipomatosis of the tongue (SLT) is an extremely rare condition related to generalized lipidosis that is often caused by chronic alcoholism. It is characterized by multiple symmetric lipomatous nodules and diffuse bilateral swelling located within the tongue. We report an extremely rare case of SLT arising in an 80-year-old man with a long history of alcoholic liver cirrhosis. He exhibited multiple soft nodular protrusions on the bilateral margin of the tongue presenting as macroglossia for years. Although MR imaging showed multiple fatty masses on both sides of the tongue, there was no elevated tumor mass on the bilateral margin. The patient underwent bilateral partial glossectomy under general anesthesia. Histopathologically, the resected tumor exhibited diffuse infiltration with mature adipose tissue lacking a fibrous capsule. Due to the lipidosis and the unusual presentation of multiple lesions, the lesion was ultimately diagnosed as SLT. At present, after surgery, the patient wears a full-denture and is in excellent condition, with no sign of recurrence, improved QOL, and recovery of masticatory, articulatory, and speech intelligibility functions.


2021 ◽  
Vol 108 (Supplement_7) ◽  
Author(s):  
Tiffany Cheung ◽  
Roberto Presa ◽  
Antonio Manzelli

Abstract Aims Gallbladder agenesis is a rare congenital anatomical malformation with an incidence of 0.007-0.0027%. Although usually asymptomatic, clinically it may present similarly to biliary colic. There may be increased risk of de novo biliary duct stone formation due to biliary dyskinesia, subsequent duct dilatation and biliary stasis. We present a case of incidental gallbladder agenesis identified during intended laparoscopic cholecystectomy. Methods A 68 year-old female with no significant comorbidities presented with a 16 hour history of colicky right upper quadrant pain and vomiting. She had been awaiting cholecystectomy for increasingly symptomatic gallstones, most recently visualised within a contracted gallbladder on ultrasound two months prior. Recurrently obstructive LFT’s warranted urgent magnetic resonance cholangiopancreatography (MRCP), which identified a poorly-visualised contracted gallbladder and a 10mm common bile duct without filling defect. At index laparoscopic cholecystectomy, a very small thick-walled structure resembling the gallbladder was identified and safely excised in retrograde; a stone was seen within. Results Macroscopic examination revealed a 27 x 9 x 11mm piece of dark brown tissue containing soft orange material. Microscopic histological examination confirmed this to be cystic duct focally lined by mucinous epithelium with chronic inflammation. Findings were consistent with gallbladder agenesis. Conclusions Although rare, it is important for surgeons to maintain an index of suspicion for gallbladder agenesis, particularly if repeated imaging demonstrates a poorly-visualised or ‘contracted’ gallbladder despite adequate fasting. Furthermore, as in this case, the presence of ‘gallbladder’ stones radiologically does not preclude gallbladder agenesis. Anticipation of this malformation may aid interpretation of biliary anatomy, if incidentally found intra-operatively.


2017 ◽  
Vol 10 (3) ◽  
pp. 819-825 ◽  
Author(s):  
Eugenio Tagliaferri ◽  
Heinrich Bergmann ◽  
Sebastian Hammans ◽  
Alireza Azizi ◽  
Eckhard Stüber ◽  
...  

Isolated agenesis of the gallbladder is usually a rare asymptomatic anatomical variation, with an estimated incidence of 10–65 per 100,000. Females are more commonly affected (ratio 3: 1), with the disease typically presenting in the second or third decade of their life. Despite an absent gallbladder, half of the patients present with symptoms similar to biliary colic, which is poorly understood. The rarity of this condition combined with its clinical and radiological features often lead to a wrong preoperative diagnosis so that many patients undergo unnecessary operative intervention. Herein, we present the case of a 56-year-old female with a typical biliary colic who was diagnosed to have gallbladder agenesis. Computed tomography and magnetic resonance cholangiopancreatography allowed correct treatment and prevented an unnecessary intervention.


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