RESUMO
CONTEXT: Mitchell-Riley syndrome due to RFX6 gene mutations is characterized by neonatal diabetes and protracted diarrhea. The RFX6 gene encodes a transcription factor involved in enteroendocrine cell differentiation required for beta-cell maturation. In contrast to the pathway by which RFX6 mutations leads to diabetes, the mechanisms underlying protracted diarrhea are unknown. OBJECTIVE: To assess whether glucagon-like peptide-1 (GLP-1) was involved in the pathogenesis of Mitchell-Riley syndrome protracted diarrhea. METHODS: Two case report descriptions. in a tertiary pediatric hospital. "Off-label" treatment with liraglutide. We describe 2 children diagnosed with Mitchell-Riley syndrome, presenting neonatal diabetes and protracted diarrhea. Both patients had nearly undetectable GLP-1 plasma levels and absence of GLP-1 immunostaining in distal intestine and rectum. The main outcome was to evaluate whether GLP-1 analogue therapy could improve Mitchell-Riley syndrome protracted diarrhea. RESULTS: "Off-label" liraglutide treatment, licensed for type 2 diabetes treatment in children, was started as rescue therapy for protracted intractable diarrhea resulting in rapid improvement during the course of 12 months. CONCLUSION: Congenital GLP-1 deficiency was identified in patients with Mitchell-Riley syndrome. The favorable response to liraglutide further supports GLP-1 involvement in the pathogenesis of protracted diarrhea and its potential therapeutic use.
Assuntos
Diabetes Mellitus/etiologia , Diarreia/etiologia , Doenças da Vesícula Biliar/etiologia , Peptídeo 1 Semelhante ao Glucagon/deficiência , Atresia Intestinal/etiologia , Criança , Consanguinidade , Diabetes Mellitus/sangue , Diabetes Mellitus/congênito , Diabetes Mellitus/genética , Diarreia/sangue , Diarreia/congênito , Evolução Fatal , Feminino , Doenças da Vesícula Biliar/sangue , Doenças da Vesícula Biliar/congênito , Peptídeo 1 Semelhante ao Glucagon/sangue , Peptídeo 1 Semelhante ao Glucagon/fisiologia , Encefalopatia Hepática/genética , Encefalopatia Hepática/patologia , Humanos , Lactente , Atresia Intestinal/sangue , Mutação de Sentido Incorreto , Portugal , Fatores de Transcrição de Fator Regulador X/genéticaRESUMO
Gallbladder duplication can present a clinical challenge primarily due to difficulties with diagnosis and identification. Recognition of this anomaly and its various types is important since it can complicate a gallbladder disease or a simple hepatobiliary surgical procedure. The case report of a 63-year-old woman who presented with cholangitis and underwent a successful laparoscopic management of symptomatic gallbladder duplication is described, emphasizing several important considerations. Using ERCP, MRCP and 3D reconstructions the two cystic ducts with one common bile duct were identified. A review of the literature in referral of this variant, its anatomical classifications and significance to clinical and surgical practice is included. In conclusion, gallbladder anomalies should be anticipated in the presence of a cystic lesion reported around the gallbladder when evaluating radiologic studies. In case of surgery, preoperative diagnosis is essential to prevent possible biliary injuries or reoperation if accessory gallbladder has been overlooked during initial surgery. Laparoscopic cholecystectomy remains feasible for intervention can be safely done and awareness is necessary to avoid complications or multiple procedures.
Assuntos
Colangite/etiologia , Doenças da Vesícula Biliar/congênito , Vesícula Biliar/anormalidades , Doença Aguda , Colangiopancreatografia Retrógrada Endoscópica , Colangiopancreatografia por Ressonância Magnética/métodos , Colangite/diagnóstico , Colecistectomia Laparoscópica/métodos , Diagnóstico Diferencial , Feminino , Vesícula Biliar/diagnóstico por imagem , Vesícula Biliar/cirurgia , Doenças da Vesícula Biliar/complicações , Doenças da Vesícula Biliar/diagnóstico , Humanos , Imageamento Tridimensional , Pessoa de Meia-IdadeRESUMO
Agenesis of the right liver is a rare congenital anomaly which can be associated with an ectopic gallbladder. Hereby, it is presented the case of a 39-year-old man investigated for right upper quadrant abdominal pain and diagnosed at computed tomography with a cystic liver mass initially considered as hydatid cyst. At laparotomy, it was discovered agenesis of the right liver and the presumed hydatid cyst was a retrohepatic gallbladder with lithiasis. Cholecystectomy was performed with an uneventful outcome. Reassessment of the computed tomography images by an experienced radiologist confirmed the intraoperative diagnosis. Although agenesis of the right liver with retrohepatic gallbladder is an exceptional appearance, surgeons should be aware of this anomaly because it can raise challenging issues of diagnosis and surgical planning during cholecystectomy.
Assuntos
Anormalidades do Sistema Digestório/diagnóstico , Doenças da Vesícula Biliar/congênito , Vesícula Biliar/anormalidades , Hepatopatias/congênito , Fígado/anormalidades , Adulto , Colecistectomia , Colelitíase/cirurgia , Diagnóstico Diferencial , Anormalidades do Sistema Digestório/diagnóstico por imagem , Anormalidades do Sistema Digestório/cirurgia , Equinococose Hepática/diagnóstico , Equinococose Hepática/diagnóstico por imagem , Vesícula Biliar/diagnóstico por imagem , Vesícula Biliar/cirurgia , Doenças da Vesícula Biliar/diagnóstico por imagem , Doenças da Vesícula Biliar/cirurgia , Humanos , Fígado/diagnóstico por imagem , Hepatopatias/diagnóstico por imagem , Masculino , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
RATIONALE: Gallbladder duplication is a rare congenital disorder, which could cause an increasing risk of complications during surgery. The coexistence of cholangiocarcinoma with double gallbladder is extremely rare, which might lead to an even higher possibility of misdiagnosis and postsurgery complications. PATIENT CONCERNS: A 58-year-old female was presented with abdominal pain and jaundice. Abdominal ultrasonography showed duplication of gallbladder, one of which with a thickened wall and a rough surface. This was also confirmed by an abdominal computed tomography (CT), magnetic resonance imaging (MRI) and magnetic resonance cholangiopancreatography (MRCP) scan. During the surgery, we found a tumor inside one bile duct. The postsurgery pathology showed adenosquamous carcinoma. DIAGNOSES: Gallbladder duplication, cholangiocarcinoma. INTERVENTIONS: The tumor was removed by surgery. OUTCOMES: The patient died of tumor relapse six months after surgery. LESSONS: This is the first reported case with coexistence of gallbladder duplication and cholangiocarcinoma, which was diagnosed by abdominal ultrasound, CT and MRCP, as well as further confirmed in surgery and pathology. This case emphasized the importance of a thorough examination of gallbladder before surgery, especially in those cases with suspected double gallbladder, since each gallbladder could have the possibility of an independent cholangiocarcinoma.
Assuntos
Carcinoma Adenoescamoso , Colangiocarcinoma , Colecistectomia/métodos , Doenças da Vesícula Biliar , Vesícula Biliar , Recidiva Local de Neoplasia/patologia , Neoplasias dos Ductos Biliares/patologia , Carcinoma Adenoescamoso/patologia , Carcinoma Adenoescamoso/fisiopatologia , Carcinoma Adenoescamoso/cirurgia , Colangiocarcinoma/patologia , Colangiocarcinoma/fisiopatologia , Colangiocarcinoma/cirurgia , Colangiopancreatografia por Ressonância Magnética/métodos , Erros de Diagnóstico/prevenção & controle , Evolução Fatal , Feminino , Vesícula Biliar/anormalidades , Vesícula Biliar/diagnóstico por imagem , Doenças da Vesícula Biliar/congênito , Doenças da Vesícula Biliar/diagnóstico , Doenças da Vesícula Biliar/cirurgia , Humanos , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X/métodos , Ultrassonografia/métodosRESUMO
BACKGROUND: Multiple gallbladders (MG) are a rare malformation, with no clear data on its clinical impact, therapeutic indications or risk for malignancy. METHODS: A systematic review of all published literature between 1990 and 2017 was performed using the PRISMA guidelines. RESULTS: Data of 181 patients extracted from 153 studies were reviewed. MG were diagnosed during the treatment of a gallstone-related disease in 83% of patients, of which 13% had previous cholecystectomy and had a recurrence of biliary stone disease. The sensitivity of ultrasound scan was 66%, and that of magnetic resonance imaging cholangio-pancreatography, 97%. The cystic duct was common to both gallbladders (type1) in 43% and separated (type 2) in 50% of patients. In the latter case, there was no way to differentiate preoperatively an accessory gallbladder from a Todani II bile duct cyst. Cholecystectomy was performed in 129 patients by laparotomy (43%) or laparoscopy (56%). MG was undiagnosed before surgery in 24% of the patients. The postoperative biliary leakage rate was 0.7%. In two patients, gallbladder cancers were detected. CONCLUSION: MG are difficult to diagnose and share a common natural history with single gallbladders, without evidence of increased risk for malignancy. Excision of both gallbladders is indicated in symptomatic stone disease. However, prophylactic cholecystectomy must be considered for type 2 MG, since it cannot be preoperatively differentiated from a Todani II bile duct cyst, which is associated with a risk of malignant transformation.
Assuntos
Ducto Cístico/anormalidades , Doenças da Vesícula Biliar/congênito , Vesícula Biliar/anormalidades , Adulto , Colecistectomia , Cisto do Colédoco/diagnóstico por imagem , Cisto do Colédoco/patologia , Ducto Cístico/diagnóstico por imagem , Ducto Cístico/cirurgia , Diagnóstico Diferencial , Feminino , Vesícula Biliar/diagnóstico por imagem , Vesícula Biliar/cirurgia , Doenças da Vesícula Biliar/diagnóstico por imagem , Doenças da Vesícula Biliar/patologia , Doenças da Vesícula Biliar/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Adulto JovemAssuntos
Doenças da Vesícula Biliar/congênito , Vesícula Biliar/anormalidades , Cálculos Biliares/diagnóstico por imagem , Colangiografia/métodos , Colecistectomia Laparoscópica/métodos , Procedimentos Cirúrgicos Eletivos/métodos , Feminino , Vesícula Biliar/diagnóstico por imagem , Vesícula Biliar/cirurgia , Doenças da Vesícula Biliar/epidemiologia , Doenças da Vesícula Biliar/cirurgia , Cálculos Biliares/cirurgia , Humanos , Cuidados Intraoperatórios , Pessoa de Meia-Idade , Prevalência , Resultado do TratamentoRESUMO
Duplication of the gallbladder is a rare congenital anomaly of the biliary system. We herein present a case of a 9-month-old full-term female with a prenatally identified gallbladder duplication cyst managed via laparoscopic excision.
Assuntos
Colecistectomia Laparoscópica/métodos , Doenças da Vesícula Biliar/cirurgia , Vesícula Biliar/anormalidades , Biópsia , Cistos/cirurgia , Feminino , Vesícula Biliar/diagnóstico por imagem , Vesícula Biliar/cirurgia , Doenças da Vesícula Biliar/congênito , Doenças da Vesícula Biliar/diagnóstico , Humanos , LactenteRESUMO
Ciliated foregut cysts are rare anomalies due to aberrant embryological development. Only a small number of gallbladder ciliated foregut cysts have been reported. We report the case of a 29-year-old woman presenting with epigastric pain associated with diarrhoea and vomiting, who was found to have raised serum bilirubin levels and abnormal liver function tests. Following a diagnostic pathway including abdominal ultrasound, magnetic resonance cholangiopancreatography and endoscopic ultrasound the gallbladder cyst was provisionally diagnosed to be a cyst arising from the cystic duct or a duplicated gallbladder. A laparoscopic cholecystectomy was carried out and histopathology identified a ciliated foregut gallbladder cyst. The postoperative course was uneventful. In this report we offer what we believe to be an optimal diagnostic pathway and therapeutic strategy for this rare congenital cyst.
Assuntos
Cistos/diagnóstico , Doenças da Vesícula Biliar/diagnóstico , Vesícula Biliar/anormalidades , Adulto , Colangiopancreatografia por Ressonância Magnética , Colecistectomia Laparoscópica/métodos , Cistos/congênito , Cistos/cirurgia , Feminino , Vesícula Biliar/cirurgia , Doenças da Vesícula Biliar/congênito , Doenças da Vesícula Biliar/cirurgia , HumanosRESUMO
Ciliated foregut cysts (CFCs) are rare masses that develop from the tissues which remain from embryological foregut development. In the literature, about a hundred cases have been described in various organs so far. Although rare, there is a risk of development of squamous cell carcinoma from these cysts that typically bear benign features. Prognosis following the development of carcinoma is poor. A female case presented with upper quadrant pain and was sent to radiology for US examination of the abdomen. In 2010, a cyst which was about 5 mm in size was detected on the wall of the gall bladder. In subsequent US, the lesion reached 7 mm in diameter and a shape protruding to the lumen was included in the findings; therefore, it was decided to operate. The mass was diagnosed as a CFC of the gallbladder. We determined that the lesion had the smallest dimension noted in the literature. Congenital gallbladder cysts are detected rather rarely. The US characteristics are enough to make a definitive diagnosis, and the other imaging methods therefore remain unnecessary. Treatment using a laparoscopic surgical method is the first preference.
Assuntos
Cistos/diagnóstico por imagem , Doenças da Vesícula Biliar/diagnóstico por imagem , Ultrassonografia Doppler , Adulto , Cílios/patologia , Cistos/congênito , Cistos/diagnóstico , Cistos/cirurgia , Diagnóstico Diferencial , Feminino , Doenças da Vesícula Biliar/congênito , Doenças da Vesícula Biliar/diagnóstico , Doenças da Vesícula Biliar/cirurgia , Humanos , Laparoscopia , Resultado do TratamentoRESUMO
We report here on a case of intraductal papillary mucinous neoplasm (IPMN) of the bile duct, associated with gallbladder agenesis. A 65-year-old woman was admitted to the hospital with epigastric pain, anorexia, and nausea. Abdominal computed tomography scan and magnetic resonance imaging showed a 5 × 2.5 cm lobulated cystic lesion in the lateral lobe of the liver. The gallbladder was not seen on both imaging modalities. Endoscopic retrograde cholangiopancreatography suggested the diagnosis of biliary IPMN due to abundant mucin that protruded from the papilla and the lobulated cystic lesion. Laparoscopic wedge resection of the liver was performed. The final pathology was consistent with biliary IPMN. The specimen showed multifocal high-grade dysplasia with negative resection margins. The patient experienced no postoperative complications and was discharged 5 days after the operation.
Assuntos
Adenocarcinoma Mucinoso/cirurgia , Neoplasias dos Ductos Biliares/cirurgia , Ductos Biliares Intra-Hepáticos , Doenças da Vesícula Biliar/complicações , Vesícula Biliar/anormalidades , Hepatectomia/métodos , Laparoscopia/métodos , Adenocarcinoma Mucinoso/complicações , Adenocarcinoma Mucinoso/diagnóstico , Idoso , Neoplasias dos Ductos Biliares/complicações , Neoplasias dos Ductos Biliares/diagnóstico , Colangiopancreatografia Retrógrada Endoscópica , Colangiopancreatografia por Ressonância Magnética , Feminino , Doenças da Vesícula Biliar/congênito , Doenças da Vesícula Biliar/cirurgia , Humanos , Tomografia Computadorizada por Raios XRESUMO
A 6-year-old neutered male domestic shorthair cat was presented for acute onset of vomiting. Exploratory laparotomy identified a duplex gallbladder and left cholecystectomy was performed. Histopathology confirmed biliary mucocele and hepatic cholestasis. While rare, biliary mucoceles should be considered as a differential diagnosis for feline extrahepatic bile duct obstruction.
Assuntos
Doenças do Gato/diagnóstico , Colecistectomia/veterinária , Colelitíase/veterinária , Colestase Extra-Hepática/veterinária , Doenças da Vesícula Biliar/veterinária , Animais , Doenças do Gato/congênito , Gatos , Colelitíase/diagnóstico , Colestase Extra-Hepática/diagnóstico , Diagnóstico Diferencial , Doenças da Vesícula Biliar/congênito , Doenças da Vesícula Biliar/diagnóstico , Masculino , Mucocele/diagnóstico , Mucocele/veterináriaAssuntos
Dor Abdominal/etiologia , Doenças da Vesícula Biliar/congênito , Doenças da Vesícula Biliar/diagnóstico , Vesícula Biliar/anormalidades , Adulto , Colecistectomia/métodos , Colecistite/diagnóstico por imagem , Colelitíase/diagnóstico por imagem , Doença Crônica , Diagnóstico Diferencial , Feminino , Doenças da Vesícula Biliar/complicações , Doenças da Vesícula Biliar/diagnóstico por imagem , Doenças da Vesícula Biliar/patologia , Humanos , Radiografia , UltrassonografiaAssuntos
Anormalidades Múltiplas , Colecistectomia Laparoscópica/métodos , Cisto do Colédoco/diagnóstico , Doenças da Vesícula Biliar/congênito , Vesícula Biliar/anormalidades , Colangiopancreatografia por Ressonância Magnética , Cisto do Colédoco/cirurgia , Diagnóstico Diferencial , Seguimentos , Doenças da Vesícula Biliar/diagnóstico , Doenças da Vesícula Biliar/cirurgia , Humanos , Período Intraoperatório , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios XRESUMO
Duplication of the gallbladder is a rare entity. This case highlights a 36-year-old woman who presented to Arrowhead Regional Medical Center after referral from an outside institution with gallstone pancreatitis. Ultrasound, computed tomography scan, and magnetic resonance cholangiopancreatography showed evidence of a biliary anomaly preoperatively concerning for a duplicated gallbladder or choledochal cyst. Subsequent laparoscopic cholecystectomy and intraoperative cholangiogram confirmed the presence of a duplicated gallbladder. A second intrahepatic gallbladder with connection to the right hepatic duct was identified and the first gallbladder's connection to the common hepatic duct was noted. Both gallbladders contained hundreds of small stones. The patient did well postoperatively and has had no adverse sequelae. A literature review revealed an incidence of 1 in 4000 autopsies with a duplicated gallbladder. Sixty-seven case reports have been published and only 20 cases were managed laparoscopically.
Assuntos
Colecistectomia Laparoscópica/métodos , Doenças da Vesícula Biliar/cirurgia , Vesícula Biliar/anormalidades , Adulto , Colangiopancreatografia por Ressonância Magnética , Diagnóstico Diferencial , Feminino , Vesícula Biliar/cirurgia , Doenças da Vesícula Biliar/congênito , Doenças da Vesícula Biliar/diagnóstico , Humanos , Tomografia Computadorizada por Raios XRESUMO
Gallbladder agenesis is uncommon. In contrast, liver haemangiomas are the most common type of benign liver lesions. We describe the first documented case of gallbladder agenesis where the clinical presentation was consistent with biliary colic, and radiological investigation suggested the presence of gallstones. Subsequent operative findings revealed a solitary haemangioma of the liver sited in the normal position of the gallbladder fossa but with absence of the gallbladder. It is important that clinicians should keep gallbladder agenesis in mind when the gallbladder appears abnormal on preoperative imaging studies and cannot be found at laparoscopy. As symptoms will improve in 98% of cases, it is very important to avoid unnecessary intervention in patients who have a negative laparoscopy. The clinical presentation, investigations, and operative findings are discussed with a review of other relevant reported cases in the literature.
Assuntos
Doenças da Vesícula Biliar/congênito , Vesícula Biliar/anormalidades , Hemangioma/diagnóstico , Neoplasias Hepáticas/diagnóstico , Diagnóstico Diferencial , Feminino , Seguimentos , Doenças da Vesícula Biliar/diagnóstico , Doenças da Vesícula Biliar/cirurgia , Hemangioma/cirurgia , Humanos , Laparoscopia , Neoplasias Hepáticas/cirurgia , Imageamento por Ressonância Magnética , Procedimentos Desnecessários , Adulto JovemRESUMO
BACKGROUND: We hypothesized neuronal disorders of the biliary tract as the cause of congenital biliary dilation (CBD). METHODS: Gallbladders were removed from a total of 15 patients who were categorized into two study groups: a CBD group (eight patients) and in a control group (neuroblastoma, acute myelogenous leukemia, wandering gallbladder, Wilms' tumor, glycogen storage disease, familial amyloid polyneuropathy; seven patients). Whole-mount preparations of the gallbladders were made to immunostain the intramural nerves. RESULTS: The intramural vascularity in the gallbladders of the CBD group (5.5 +/- 1.9/cm(2)) was significantly lower than that in the control group (27.6 +/- 14.4/cm(2)). The rate of perivascular plexuses on the surface of intramural vessels was also significantly lower in the CBD group than in the controls (37.7 +/- 18.1 vs. 80.2 +/- 17.4%, respectively). The numbers of ganglion cells per visual field were 38.5 +/- 24.0 and 42.3 +/- 20.6, respectively, in the CBD and control groups; this difference was not statistically significant. CONCLUSIONS: There may be a mechanism in CBD causing contractile failure and dilatation of the biliary tract as a result of decreased intramural blood flow that accompanies the diminished vascularity.
Assuntos
Doenças da Vesícula Biliar/congênito , Doenças da Vesícula Biliar/fisiopatologia , Vesícula Biliar/irrigação sanguínea , Vesícula Biliar/inervação , Rede Nervosa/patologia , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Dilatação Patológica/congênito , Dilatação Patológica/patologia , Feminino , Humanos , Lactente , Masculino , Neurônios Aferentes , Probabilidade , Valores de Referência , Fluxo Sanguíneo Regional/fisiologia , Fatores de Risco , Sensibilidade e Especificidade , Estatísticas não ParamétricasRESUMO
Gallbladder congenital duplication is a rare disease difficultly diagnosed preoperatively. Eight days after a laparoscopic cholecystectomy a 72-year-old man, complaining of abdominal pain and vomiting, presented to our emergency department. Ultrasound and computer tomography (CT) scans demonstrated a gallbladder-like structure with a 12-mm diameter stone and a subhepatic fluid collection. During an endoscopic retrograde cholangiopancreatography, a probably second gallbladder with a fistula of the posterior wall was filled with contrast. Laparoscopic exploration confirmed a missed gallbladder, which was successfully removed. Histologic diagnosis of cholecystolithiasis and chronic cholecystitis was made. The postoperative course was uneventful. Symptomatic double gallbladder should be considered also during the complicated postoperative course after the laparoscopic cholecystectomy and laparoscopic reoperation is feasible.