International Journal of Surgery Case Reports 94 (2022) 107026 Contents lists available at ScienceDirect International Journal of Surgery Case Reports journal homepage: www.elsevier.com/locate/ijscr Case report Case report of a gallbladder agenesis, a diagnostic challenge Anna Cegarra-Besora *, Pablo González-Álvarez, Montserrat Montraveta-Querol, Maria-Victoria Bovo Pediatric Gastroenterology Department, Pediatric Service, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain A R T I C L E I N F O A B S T R A C T Keywords: Introduction and importance: Agenesis of the gallbladder is an underdiagnosed entity. It can be an asymptomatic Gallbladder agenesis pathology, usually diagnosed incidentally as a finding on imaging techniques or in necropsies. There are Magnetic resonance symptomatic cases presenting as biliary colic too, attributed to cholecystitis or cholangitis, leading to exploratory Cholangiopancreatography surgeries. Biliary tract Biliary colic Case presentation: We present a 14-year-old boy admitted to the outpatient Pediatric Gastroenterology Depart­ Case report ment with a history of daily abdominal pain for the past 2 months. Blood and fecal tests were normal. Coeliac disease, inflammatory intestinal diseases and Helicobacter pylori infection were ruled out. An abdominal US was informed of a hypodistensed gallbladder with no other findings. A CT scan was performed, which reported of an absent gallbladder. Upon these findings, a Magnetic Resonance Cholangiopancreatography (MRCP) was carried out, confirming the diagnosis of agenesis of the gallbladder. Clinical discussion: Its diagnosis still poses a challenge, as an absent gallbladder may not always be apparent by US, with the MRCP being the gold-standard test for examining the biliary tract. The prognosis is usually good, and the treatment of choice consists of antispasmodics when needed. There are few cases reported in literature, for this reason, our article discusses the most important aspects of agenesis of the gallbladder in order to suspect it, request the appropriate tests and saving unnecessary surgical interventions. Conclusion: Gallbladder agenesis is a rare entity that can lead to unnecessary diagnostic tests and interventions. The MRCP is the gold-standard test. Despite its benign nature, symptomatic treatment might be required in order to improve the patient's quality of life. 1. Introduction and importance abdominal pain for the past 2 months. Previous medical history includes an abdominal ultrasonography Agenesis of the gallbladder is an underdiagnosed entity unfamiliar to (US) 3 months earlier informing of a hypodistensed gallbladder with no physicians. Most cases are asymptomatic, diagnosed as an incidental other findings. There was no other relevant personal or familiar history finding on imaging techniques or in necropsies. Sometimes it can present to be mentioned. as a biliary colic, leading to unnecessary surgeries to treat suspected He complained of colic epigastric pain irradiated to the right hypo­ cholecystitis or cholangitis. With only a few cases reported in the liter­ chondriac region, which improved after eating, without pyrosis. He ature, the present article intends to review the most important aspects of explained a brief period of vomiting at the onset of symptoms, now agenesis of the gallbladder in order to guide clinicians in its diagnosis resolved. He presented a constipated habit, without blood, mucus, and management. acholia or choluria. Asthenia, anorexia and a weight loss of 4 kg were noted, without fever or other symptoms. Physical examination revealed 2. Case presentation no findings. Blood tests were taken, including a complete blood count and a We present the case of a 14-year-old boy admitted to the outpatient chemistry panel assessing renal, hepatic, pancreatic and thyroid hor­ Pediatric Gastroenterology Department with a history of daily mones, all normal. Coeliac disease was ruled out by negative Abbreviations: MRCP, (Magnetic Resonance Cholangiopancreatography); PPIs, (Proton-pump inhibitors); US, (Ultrasonography). * Corresponding author at: Avinguda d'Espanya, 24, 3r, 2a, Parets del Vallés, Barcelona, Spain. E-mail address: anna.cegarra@gmail.com (A. Cegarra-Besora). https://doi.org/10.1016/j.ijscr.2022.107026 Received 9 February 2022; Received in revised form 28 March 2022; Accepted 31 March 2022 Available online 4 April 2022 2210-2612/© 2022 Published by Elsevier Ltd on behalf of IJS Publishing Group Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). A. Cegarra-Besora et al. International Journal of Surgery Case Reports 94 (2022) 107026 A B Fig. 1. A, Magnetic Resonance Cholangiopancreatography (MRCP) showing a normal biliary tract. B, our patient's MRCP, with an absence of gallbladder, confirming the diagnosis of agenesia. determination of anti-transglutaminase antibodies and normal duodenal agenesia images in empty gallbladders. The prognosis is usually good, biopsy. Inflammatory intestinal diseases were also ruled out by normal and antispasmodics are the treatment of choice [2–4,6]. Thus said, no values of acute phase reactants in plasma and fecal calprotectin. Heli­ clinical guidelines or consensus have been found in the literature on its cobacter pylori antigens in feces were negative, with an unremarkable management. In our patient, the persistence of disproportionate and upper endoscopy. An abdominal US was performed, with no changes drug-resistant pain made us suspect the possibility of an added func­ from the previous one. The study was completed by a CT scan that tional disorder. informed of an absent gallbladder without other abnormalities. Upon these findings, a Magnetic Resonance Cholangiopancreatography 4. Conclusion (MRCP) was carried out, confirming the diagnosis of agenesis of the gallbladder (Fig. 1). Gallbladder agenesis is a rare entity in Pediatrics which should be Different lines of treatment were introduced, including conventional taken into account in the differential diagnosis of upper digestive tract analgesia, prokinetics, PPIs (proton-pump inhibitors), low-fat diet and symptoms. MRCP imaging showing an absent gallbladder is the gold spasmolytics, with no improvement. Given the persistence of symptoms standard in its diagnosis after other aetiologies have been ruled out. with no organic alterations found despite the gallbladder agenesis, a Awareness of this pathology may spare unnecessary surgeries and/or psychogenic component was suspected. Thus, the patient was referred to invasive procedures. Despite its benign nature, symptomatic treatment Psychiatry for further evaluation, which the family refused, dis­ might be required in order to improve the patient's quality of life. continuing treatment at our center after three years of follow-up. Consent to participate 3. Clinical discussion Verbal informed consent was obtained from patient's tutors for The agenesis of the gallbladder is an extremely rare disease, with an publication of this case report and accompanying images. Informed estimated prevalence of 0.01–0.06% [1–4], and very few pediatric cases consent has been recorded in the patient's medical history. described in the literature. It is believed to be the result of an inter­ ruption of the liver embrionary development. The hepatic diverticulum Provenance and peer review grows and connects with the intestines, thus forming first the extrahe­ patic biliary tract and last the gallbladder. A disruption before the Not commissioned, externally peer-reviewed. gallbladder has been formed would lead to a gallbladder agenesis without an added extrahepatic biliary tract dysplasia [1,3–5]. Funding It can present on its own or in association with other malformations and syndromes. When solitary, it is usually asymptomatic, diagnosed No funding was received. incidentally as a finding on imaging techniques or in necropsies [2,5–7]. Mild symptomatic cases presenting as biliary colic have also been Ethical approval described, leading to unnecessary surgeries [2–7]. In such cases, pain is believed to arise from an added sphincter of Oddi dysfunction, either Ethics approval is not applicable worsening biliary ectasia and favoring gallstone formation in the com­ mon bile duct or causing a biliary dyskinesia with painful spasms of the Guarantor Oddi sphincter [1,3,4,6]. Up to date its diagnosis still poses a challenge, as an absent gall­ Montserrat Montraveta Querol bladder may not always be apparent by US, with the MRCP being the gold-standard for examining the biliary tract [1–7]. Importantly, fasting should be ensured prior to radiologic examination in order to avoid false 2 A. Cegarra-Besora et al. International Journal of Surgery Case Reports 94 (2022) 107026 CRediT authorship contribution statement References Anna Cegarra: diagnosis and clinical management of the case, liter­ [1] B. D'Orazio, F. Famà, G. Martorana, Gallbladder agenesis: report of a preoperative diagnosis with magnetic resonance cholangiopancreatography, Cureus 12 (8) ature review, write the manuscript in Spanish (2020), e9647. Pablo Gonzalez: diagnosis and clinical management of the case, [2] I. Pipia, G. Kenchadzea, Z. Demetrashvili, et al., Gallbladder agenesis: a case report literature review, translation of the manuscript into English and review of the literature, IJSCR 53 (2018) 235–237. [3] A. Rajkumar, A. Piya, et al., Gall bladder agenesis: a rare embryonic cause of Montserrat Montraveta: diagnosis and clinical management of the recurrent biliary colic, Am. J. Case Rep. 18 (2017) 334–338. case, literature review, manuscript correction and validation [4] E. Tagliaferria, H. Bergmanna, S. Hammansa, et al., Agenesis of the gallbladder: role Victoria Bovo: diagnosis and clinical management of the case, liter­ of clinical suspicion and magnetic resonance to avoid unnecessary surgery, Case Rep. Gastroenterol. 10 (2016) 819–825. ature review, manuscript correction and validation [5] G. Bianco, F. Frongillo, S. Agnes, et al., Gallbladder agenesis: a case report and brief review, Ann. Hepatobiliary Pancreat. Surg. 22 (2018) 292–295. Declaration of competing interest [6] J. Hun Jung, H. Rim Suh, D. 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