OpenMed/multicare-articles huggingface dataset:
Gastric outlet obstruction possibly secondary to ulceration in a 2-year-old girl: a case report
Authors: Manabu Okawada, Tadaharu Okazaki, Tsubasa Takahashi, Geoffrey J Lane, Atsuyuki Yamataka
Journal: Cases J (2009)

Gastric outlet obstruction due to ulceration is extremely rare in childhood. We report a case of gastric outlet obstruction possibly secondary to peptic ulceration and our surgical management. Our approach, without vagotomy or antrectomy, would appear to be a safe and effective.
Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome
Authors: Meizhen Shi, Yuying Liang, Bobo Xie, Xianda Wei, Haiyang Zheng, Chunrong Gui, Rong Huang, Xin Fan, Chuan Li, Xiaojiao Wei, Yunting Ma, Shaoke Chen, Yujun Chen, Baoheng Gui
Journal: Front Genet (2022)
Keywords: nipbl, cornelia de lange syndrome, non-canonical splice donor, synonymous variant, whole-exome sequencing
MeSH terms: Case Reports

Cornelia de Lange syndrome (CdLS) is an autosomal dominant or X-linked genetic disease with significant genetic heterogeneity. Variants of the NIPBL gene are responsible for CdLS in 60% of patients. Herein, we report the case of a patient with CdLS showing distinctive facial features, microcephaly, developmental delay, and growth retardation. Whole exome sequencing was performed for the patient, and a novel de novo heterozygous synonymous variant was identified in the deep region of exon 40 in the NIPBL gene (NM_133433.4: c. 6819G > T, p. Gly2273 = ). The clinical significance of the variant was uncertain according to the ACMG/AMP guidelines; however, based on in silico analysis, it was predicted to alter mRNA splicing. To validate the prediction, a reverse transcriptase-polymerase chain reaction was conducted. The variant activated a cryptic splice donor, generating a short transcript of NIPBL. A loss of 137 bp at the 3' end of NIPBL exon 40 was detected, which potentially altered the open reading frame by inserting multiple premature termination codons. Quantitative real-time PCR analysis showed that the ratio of the transcription level of the full-length transcript to that of the altered short transcript in the patient was 5:1, instead of 1:1. These findings may explain the relatively mild phenotype of the patient, regardless of the loss of function of the truncated protein due to a frameshift in the mRNA. To the best of our knowledge, this study is the first to report a synonymous variant in the deep exon regions of the NIPBL gene responsible for CdLS. The identified variant expands the mutational spectrum of the NIPBL gene. Furthermore, synonymous variations may be pathogenic, which should not be ignored in the clinical and genetic diagnosis of the disease.
Acute Torsion of Appendicular Mucocele
Authors: Farshid Ejtehadi, James Brooks, Hebah Hassan Ali, Vardhini Vijay
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

We present the case of an 81-year-old man with a known appendicular mucocele who presented to the emergency department with acute abdominal pain. A CT scan showed a change in orientation of the previously seen ovoid mass with surrounding fat stranding suggesting torsion. An emergency laparotomy with appendicectomy and resection of the caecal pole was performed. We discuss the findings and histopathology.
Laparoscopic-thoracoscopic esophageal resection in the treatment of giant epiphrenic esophageal diverticulum (Ivor Lewis operation): Case report
Authors: Аlexander Khitaryan, Anastasiya Golovina, Arut Mezhunts, Kamil Veliev, Raisa Zavgorodnyaya, Аlexey Orekhov
Journal: Int J Surg Case Rep (2018)
Keywords: case report, epiphrenic diverticulum, esophageal diverticulum, laparoscopic esophageal surgery, laparoscopic-thoracoscopic esophageal surgery, necrotic diverticulitis

Introduction:
Complicated esophageal diverticulum is an extremely rare disease. The most widespread surgical tactic in such cases is drainage of the mediastinum and the position of a feeding gastrostomy or enterostomy. Our objective was to demonstrate the possibility of performing a one-step operation in case of giant esophageal diverticulum with necrotic diverticulitis and sepsis on the background of dilatation of the esophagus.
Presentation of case:
A 57-year-old woman complained of persistent nagging epigastric pain, heartburn, belching, daily vomiting of eaten food and liquid, impaired swallowing, fever up to 39° C. EGD revealed large pouch of the right esophageal wall in middle and lower third of the esophagus with signs of inflammation, ulceration and necrosis and retained food in the pouch. Barium esophagogram demonstrated 50 × 100 mm epiphrenic diverticulum on the right side and in the lower third of the esophagus which contained food. CBC revealed leukocytosis along with "left upper shift" and ESR.
Discussion:
The laparoscopic-thoracoscopic esophageal resection with gastric tube plasty (Ivor Lewis operation) might be the method of choice in cases of giant epiphrenic esophageal diverticula, when esophageal resection is connected with the high risk of anastomotic dehiscence due to esophageal wall necrosis.
Conclusion:
We have established that in case of necrobiotic changes in the esophageal wall in the area of the diverticulum, this tactic is completely justified because of the greater patient safety and the less risk of the stapler suture line dehiscence.
Combination antifungal therapy without craniotomy in an immunocompromised patient with rhino-orbito-cerebral mucormycosis: A case report
Authors: Mohammadreza Salehi, Farhad Shahi, Fatema Sadaat Rizvi, Sara Ghaderkhani, Hamed Zainaldain, Sadegh Khodavaisy, Saeed Reza Jamali-Moghaddam, Seyed Ali Dehghan Manshadi, Omid Rezahosseini
Journal: Caspian J Intern Med (2020)
Keywords: combination drug therapies, invasive fungal infection, liposomal amphotericin b, mucormycosis, posaconazole
MeSH terms: Case Reports

Background:
Mucormycosis is an uncommon fungal infection caused by the members of the order Mucorales. In susceptible patients, mucormycosis can infect any tissue or organ, and without suitable treatment (i.e., debridement and antifungal therapy), this infection can be fatal. Our patient was a woman with lymphoma and cerebral mucormycosis who was treated with antifungals and without any neurosurgical debridement.
Case presentation:
Herein, we present the case of a 35-year-old woman with diagnosis of B-cell lymphoma and rhino-orbito-cerebral mucormycosis (ROCM). She was a candidate for enucleation of the left eye, orbital decompression, and sinocerebral debridement. Nevertheless, the patient refused eye enucleation and craniotomy. Finally, she was treated with a combination of antifungals and sinus debridement without eye enucleation and craniotomy.
Conclusion:
debridement, along with a combination of liposomal amphotericin B (LAMB) and posaconazole, may be a suitable therapeutic option for patients with ROCM, who are not eligible candidates for extensive surgery or craniotomy.
Case Report: The first case of primary pulmonary collision tumor comprising mixed squamous cell and glandular papilloma and glomus tumor
Authors: Chan Yang, Shuang Li, Zuoyu Liang, Lili Jiang
Journal: Front Oncol (2022)
Keywords: biphasic tumor, glomus tumor, histopathology, mixed squamous cell and glandular papilloma, pulmonary collision tumor
MeSH terms: Case Reports

A collision tumor is a rare entity, particularly if occurring in the lung. We report a case of a 57-year-old woman with a primary pulmonary collision tumor comprising mixed squamous cell and glandular papilloma (MSGP) and glomus tumor (GT). An abnormal mass was discovered in the right lung by computed tomography (CT) of the chest. A right lower lobectomy with mediastinal lymph node dissection was performed. Histological examination of the surgical specimen suggested that the lung cancer was composed of two neoplastic components. To the best of our knowledge, this is the first report of a primary pulmonary collision tumor comprising two benign tumors of different origins, which were MSGP and GT.
Portal vein pseudoaneurysm secondary to pancreatic lymphoma and biliary stent insertion: a rare cause of haemobilia
Authors: Henry Walton, Dominic Yu, Charles Imber, George Webster
Journal: CVIR Endovasc (2018)
Keywords: gastrointestinal bleeding, haemobilia, portal vein pseudoaneurysm, transhepatic vascular stent-grafting

Background:
Haemobilia, defined as bleeding from the biliary tree, is a rare entity. The most common cause of haemobilia is iatrogenic trauma, which accounts for 70% of cases. Pseudoaneurysms of the portal vein are an extremely rare cause of haemobilia with only four reported cases to date. Conservative treatment, open surgical repair and percutaneous trans hepatic stent-grafting have all been employed in these cases. This displays the lack of consensus regarding the treatment of this condition.We report the first case of a portal vein pseudoaneurysm following endoscopic common bile duct stent placement performed to relieve obstruction of the common bile duct for lymphomatous infiltration of the pancreatic head. The pseudoaneurysm was successfully treated by placement of a percutaneous trans hepatic covered stent-graft.
Case presentation:
A 42-year-old man with a history of lymphomatous infiltration of the pancreatic head and recent endoscopic common bile duct stent placement presented with sudden onset large volume haematemesis. On the portal venous phase of a triple phase CT, this was found to be secondary to a portal vein pseudoaneurysm bulging into the upper portion of the indwelling biliary stent. The pseudoaneurysm was successfully treated by percutaneous trans hepatic placement of a covered vascular stent-graft.
Conclusions:
We report a rare case of portal vein pseudo aneurysm successfully treated by percutaneous trans hepatic portal venous covered vascular stent-graft insertion.
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability
Authors: Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M Claasen, Sampathkumar Rangasamy, Matthew J Huentelman, David W Craig, Philippe M Campeau, Vinodh Narayanan, Isabelle Schrauwen
Journal: F1000Res (2017)
Keywords: autosomal dominant epilepsy, parkinsonism, tbc1d24, intellectual disability, psychosis

Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describe a family segregating autosomal dominant epilepsy, and a 37-year-old Caucasian female with a severe neurological phenotype including epilepsy, Parkinsonism, psychosis, visual and auditory hallucinations, gait ataxia and intellectual disability. Whole exome sequencing revealed two missense mutations in the TBC1D24 gene segregating within this family (c.1078C>T; p.Arg360Cys and c.404C>T; p.Pro135Leu). The female proband who presents with a severe neurological phenotype carries both of these mutations in a compound heterozygous state. The p.Pro135Leu variant, however, is present in the proband's mother and sibling as well, and is consistent with an autosomal dominant pattern linked to tonic-clonic and myoclonic epilepsy. In conclusion, we describe a single family in which TBC1D24 mutations cause expanded dominant and recessive phenotypes. In addition, we discuss and highlight that some variants in TBC1D24 might cause a dominant susceptibility to epilepsy.
Traumatic Death due to Simultaneous Double Spine Fractures in Patient with Ankylosing Spondylitis
Authors: Mitsuru Yagi, Shunsuke Sato, Atsushi Miyake, Takashi Asazuma
Journal: Case Rep Orthop (2015)

The aim of this study is to report the rare occurrence of simultaneous double spine fractures in a patient with progressive ankylosing spondylitis (AS). An 82-year-old male with established AS had low-energy falls. He had sustained simultaneous double spine fractures and died. Plain radiographs of the cervical spine were unremarkable in detecting a cervical spine fracture in a patient with AS and a spinal cord injury following a fall. CT scan showed a displaced fracture at the C6/C7 with American Spinal Injury Association-A spinal cord injury and displaced fracture at L1. The cause of death was determined to be upper spinal cord injury caused by cervical spinal fracture and dislocation that were facilitated by spinal rigidity from AS. This case report illustrates the importance of obtaining a detailed medical history and thorough imaging study when investigating deaths, including nonfatal conditions, such as AS. Furthermore, it shows the value of entire spine CT scan in the evaluation of the mechanism, further spine fractures, and manner of death. Despite the occurrence of spine fracture in AS patients, simultaneous double or multiple spine fractures are extremely rare and can be missed. Care should be taken for the further spine fracture in the entire spine in patient with AS.
Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease
Authors: Patrícia Varela, Myrtes Martins Caldas, João Bosco Pesquero
Journal: Front Genet (2019)
Keywords: fabry disease, gla gene, intron inclusion, splice site mutation, α-galactosidase a
MeSH terms: Case Reports

Fabry disease (FD) is a rare and underdiagnosed X-linked disorder resulting from the deficient activity of the lysosomal hydrolase α-galactosidase A, which leads to storage of complex glycosphingolipids inside of lysosomes in critical organs and tissues, impairing their functions and consequently resulting in a progressive multisystem disease. FD is caused by mutations in the GLA gene, and only 4.6% of described mutations are located in the splice site regions. RNA splicing is an essential step to the formation of functional proteins, and mutations in splice site regions can cause formation of aberrant transcripts leading to disease. Here we report a novel GLA insertion at position c.801+3 in intron 5 (c.801+2_801+3insT) in a Brazilian family with suspicion of FD. The index case, a 46-year-old male, presented undetectable α-galactosidase A activity. Analysis of blood cDNA found two aberrant GLA transcripts. In the first transcript, a novel donor splice site was created promoting formation of an intron inclusion with 37 bp. The splice site was not recognized in the second transcript and the intron 5 was not excised. The wild-type transcript was not formed and both aberrant transcripts lead to a premature stop codon. Despite not being in the canonical site, this new mutation disrupts existing 5' splice site and produces two aberrant transcripts leading to FD.
Multidrug Resistant Pseudomonas Mycotic Pseudoaneurysm following Cardiac Transplant Bridged by Ventricular Assistant Device
Authors: C Aye, M Williams, R Horvath
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Mycotic pseudoaneurysm of aorta following cardiac surgery is rare but is highly fatal if it is unrecognized and untreated. Here, we report a case of a 45-year-old male patient who presented with rapidly progressive multiple pseudoaneurysms of the ascending aorta infected with multidrug resistant (MDR) Pseudomonas aeruginosa at 5 weeks after cardiac transplantation, on a background of prior bridging therapy with left ventricular assistant device (LVAD). The patient was successfully treated with the newer cephalosporin, Ceftolozane/Tazobactam, in combination with surgery. This is the first reported case of mycotic pseudoaneurysm infected with MDR Pseudomonas. This case also highlights the importance of high vigilance and timely multimodality treatment in the diagnosis and management of mycotic pseudoaneurysm following cardiac transplant, especially in patients who had LVAD.
Acute cytomegalovirus infection as a cause of venous thromboembolism
Authors: Francesca Rinaldi, Raffaella Lissandrin, Francesco Mojoli, Fausto Baldanti, Enrico Brunetti, Michela Pascarella, Maria Teresa Giordani
Journal: Mediterr J Hematol Infect Dis (2014)
MeSH terms: Case Reports

Acute Human Cytomegalovirus (HCMV) infection is an unusual cause of venous thromboembolism, a potentially life-threatening condition. Thrombus formation can occur at the onset of the disease or later during the recovery and may also occur in the absence of acute HCMV hepatitis. It is likely due to both vascular endothelium damage caused by HCMV and impairment of the clotting balance caused by the virus itself. Here we report on two immunocompetent women with splanchnic thrombosis that occurred during the course of acute HCMV infection. Although the prevalence of venous thrombosis in patients with acute HCMV infection is unknown, physicians should be aware of its occurrence, particularly in immunocompetent patients presenting with fever and unexplained abdominal pain.
An atypical presentation of intrahepatic perforated cholecystitis: a modern indication to open cholecystectomy. Report of a case
Authors: Marcello Donati, Antonio Biondi, Francesco Basile, Salvatore Gruttadauria
Journal: BMC Surg (2014)
MeSH terms: Cholecystectomy / methods, Cholecystitis / diagnosis, Liver Abscess / etiology, Case Reports, Cholecystitis / complications, Cholecystitis / surgery, Humans, Liver Abscess / diagnosis, Male, Middle Aged

Background:
Intrahepatic gallbladder perforation with chronic liver abscess formation was anecdotically reported in the literature. The aim of this work is to report a case of intrahepatic gallbladder perforation and its atypical clinical presentation.
Case presentation:
A 62-year-old male patient came to our observation; his medical history showed intermittent fever up to 39-40°C of about 2 weeks and anorexia, with an overall weight loss of about 12 Kg. Physical examination of the abdomen was negative. An ultrasound of the liver and an abdominal CT angiogram detected a disomogeneous hypoechoic-hypodense area in the 5th segment of the liver. Differential diagnosis between hepatic abscess or gallbladder cancer remained open. A surgical exploration was planned. After laparoscopic exploration, a conversion to open procedure with an atypical resection of the 5th hepatic segment was performed. Histologic examination of the specimen showed an intrahepatic chronic perforation of the gallbladder with intrahepatic abscess.
Conclusion:
To the best of our knowledge, 18 cases have been reported in the literature as a Niemeier type I perforation. Clinical presentation, even in its extreme rarity, is more often acute. Differential diagnosis between gallbladder cancer versus liver abscess remains controversial. Open approach is mandatory in such cases.
Acute pancreatitis as a complication of routine colonoscopy-A rare case report
Authors: M Masood Sidiqi, Bill Gong
Journal: Int J Surg Case Rep (2019)
Keywords: colonoscopy, colonoscopy-induced, complication, endoscopy, pancreatitis

Introduction:
Abdominal pain after colonoscopy is a relatively common symptom and usually benign. Colonoscopy-induced pancreatitis is an extremely rare phenomenon that can sometimes be missed leading to delayed diagnosis and treatment.
Presentation of case:
A 53 year old woman presented to the Emergency Department with abdominal pain, a significantly raised lipase and a CT scan revealing pancreatitis. She had no previous history of pancreatitis or any aetiological risk factors. Her pain started 2 h after having a routine outpatient colonoscopy for polyp surveillance. The endoscopist had no difficulty during the procedure and the findings were unremarkable. She developed a Systemic Inflammatory Response Syndrome (SIRS) and an ileus requiring a prolonged hospital admission. However with conservative management she improved and was discharged on day 11 post-admission in stable condition.
Discussion:
The mechanism of colonoscopy-induced pancreatitis is not well understood. Hypotheses include mechanical trauma to the pancreas caused by the endoscope particularly at the splenic flexure, over-insufflation of the colon, external abdominal pressure, and transmural colonic burns via electrocautery causing irritation to the pancreas.
Conclusion:
Pancreatitis should be considered in the differential diagnosis of abdominal pain post-colonoscopy after the more common explanations are excluded.
Chordoid Glioma as a Differential Diagnosis of Anterior Third Ventricle Tumours: A Rare Case Report and Five-Year Follow-Up
Authors: Kristin Suetens, Jeroen Swinnen, Linde Stessens, Sofie Van Cauter, Geert Gelin
Journal: Case Rep Radiol (2019)
MeSH terms: Case Reports

Chordoid glioma is a rare and relatively recently defined tumour entity. Worldwide there have only been around 90 cases described until now. A chordoid glioma comprises a low-grade suprasellar neuroepithelial neoplasm originating in the anterior part of the third ventricle, with consistent radiological features on MRI. This lesion should be considered as a differential of third ventricle tumours. The patient described in this paper is quite unique in the sense that despite only partial tumour resection was obtained, the residual tumour was not progressive during several years of follow-up. Preoperative recognition of this disease entity is crucial to modify the treatment approach and improve patient outcome.
Partial cystectomy for bladder squamous cell carcinoma with a 10-year follow-up: a case report
Authors: Na Yin, Wei Zhao, Tao He, Tingchao Li, Xu Lei, Hao He, Zongmin Long, Yan Wang
Journal: Front Oncol (2023)
Keywords: carcinoma, diagnosis, partial resection, pathology, prognosis, squamous cell, urinary bladder neoplasms
MeSH terms: Case Reports

Squamous cell carcinoma (SCC) of the bladder is a rare malignancy of the urinary system. It is prone to invasion and metastasis in the early stage and has a poor prognosis. This case reports a 65-year-old female patient with SCC of the bladder who was free of disease recurrence and metastasis 10 years after partial cystectomy (PC) combined with left ureteral reimplantation. The treatment plan and admission of this patient were retrospectively analyzed in order to provide some reference significance for the treatment plan for the SCC of the bladder.
Massive congenital bidirectional coronary arteriovenous malformation presenting with signs and symptoms of congestive heart failure in an adult: a case report and review of the literature
Authors: H M M Al Hashimi, A J Wardeh, S Bulut, F W A Verheugt
Journal: Case Rep Cardiol (2011)
MeSH terms: Case Reports

Congenital anomalies of the coronary arteries are relatively rare. Mostly asymptomatic, however, some can cause problems, as heart failure, myocardial ischemia, and ventricular arrhythmia, and are associated with risk of complications, such as endocarditis and coronary rupture or sudden death. A case of a 69-year-old man with complaints of tiredness, dyspnea, and palpitation due to coronary artery fistula is presented with a review of the literature.