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1.
Am J Case Rep ; 25: e943843, 2024 May 17.
Artigo em Inglês | MEDLINE | ID: mdl-38755958

RESUMO

BACKGROUND The gallbladder develops from the hepatic diverticulum during the fourth week of gestation, which also give rise to the liver, extrahepatic biliary ducts, and ventral part of the pancreas. Infrequently, the gallbladder has malformation or disruption in embryogenesis, leading to congenital anomalies. There are various congenital anomalies that can arise in the gallbladder. True or congenital diverticulum of the gallbladder is a rare entity that accounts for only 0.06% of gallbladder congenital anomalies and 0.0008% of cholecystectomies at the Mayo Clinic. CASE REPORT Herein, we report a rare case of a 38-year-old woman who presented to Jubail General Hospital's surgery clinic with right upper-quadrant (RUQ) pain associated with vomiting after meals for 1 month. Laparoscopic cholecystectomy was done and gallbladder tissue was sent to histopathology. Gross examination revealed an outpouching mucosa within the wall that was proven to consist of muscularis and serosa layers under light microscope. Interestingly, xanthogranulomatous inflammation was confined to the diverticulum, unlike the chronic inflammation involving the remaining gallbladder. Based on the above findings, the diagnosis of congenital diverticulum with xanthogranulomatous cholecystitis was made. CONCLUSIONS Gallbladders associated with a true diverticulum are uncommonly found to be buried in the liver, leading to surgical difficulties during cholecystectomy. Therefore, background knowledge of occasional anomalies plays a crucial role in guiding the surgeon to choose the optimal method of management. We also discuss the associated complications that accompany these anomalies, such as non-specific prolonged ailments, acalculous cholecystitis, cholecystitis and cholelithiasis, recurrent cholangitis, and carcinoma of the gallbladder.


Assuntos
Colecistite , Divertículo , Vesícula Biliar , Xantomatose , Humanos , Feminino , Adulto , Xantomatose/cirurgia , Xantomatose/diagnóstico , Colecistite/cirurgia , Colecistite/diagnóstico , Divertículo/cirurgia , Divertículo/diagnóstico , Divertículo/complicações , Vesícula Biliar/anormalidades , Vesícula Biliar/patologia , Granuloma/cirurgia , Granuloma/diagnóstico , Colecistectomia Laparoscópica
2.
J Med Case Rep ; 17(1): 546, 2023 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-38098096

RESUMO

BACKGROUND: Gastrointestinal stromal tumor is considered the most common mesenchymal neoplasm of the gastrointestinal tract. The majority of gastrointestinal stromal tumor cases are located in the stomach and usually affects older adults. Most of gastrointestinal stromal tumor cases are sporadic; however, few have a syndromic association, including Carney triad, Carney-Stratakis syndrome, familial gastrointestinal stromal tumor syndrome, and neurofibromatosis type 1. CASE PRESENTATION: Herein, we report a rare case of a 54-year-old Middle-Eastern female with multifocal gastrointestinal stromal tumor mixed type (epithelioid and spindle cell type) with osseous metaplasia. Fluoresce in situ hybridization analysis of platelet-derived growth factor receptor alpha revealed deletion in 42% of the tumor cells studied. Interestingly, next generation sequencing revealed platelet-derived growth factor receptor alpha exon 12 mutation (p.Y555C) and exon 14 mutation (p.N659Y). CONCLUSIONS: In conclusion, osseous metaplasia in GIST is a very rare event and only few cases are reported in the literature. The number of reported cases is inadequate to confirm the pathogenesis and the prognosis.


Assuntos
Tumores do Estroma Gastrointestinal , Neoplasias Gástricas , Humanos , Feminino , Idoso , Pessoa de Meia-Idade , Tumores do Estroma Gastrointestinal/patologia , Neoplasias Gástricas/patologia , Metaplasia , Receptores do Fator de Crescimento Derivado de Plaquetas/genética , Mutação
3.
Am J Case Rep ; 21: e928224, 2020 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-33249419

RESUMO

BACKGROUND Pilocytic astrocytoma is a low-grade glioma that is common in children. Pilocytic astrocytoma is a slow-growing neoplasm that may calcify and occurs throughout the central nervous system, but it has a preference to be located infratentorial in children. CASE REPORT Herein, we report an unusual intraventricular location of pilocytic astrocytoma with extensive calcification in a 37-year-old Saudi man who mainly presented with a headache. Although pilocytic astrocytoma can arise throughout the central nervous system, it very rarely arises from the ventricles, especially the lateral ventricle. CONCLUSIONS The majority of intraventricular tumors arise within the third and fourth ventricles. The unusual intraventricular location and the unexpected age group are the main difficulties in diagnosing an adult with intraventricular pilocytic astrocytoma. Intraventricular pilocytic astrocytoma can be missed radiologically and misled pathologically; therefore, it should be considered within the differential diagnosis of intraventricular tumors. To the best of our knowledge, this is the first case to be reported in Saudi Arabia.


Assuntos
Astrocitoma , Calcinose , Adulto , Astrocitoma/diagnóstico por imagem , Calcinose/diagnóstico por imagem , Criança , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Masculino , Arábia Saudita
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