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1.
Satomi Okano Ryosuke Tanaka Akie Okayama Etsushi Tsuchida Fumikatsu Nohara Nao Suzuki Toshio Okamoto Ken Nagaya Satoru Takahashi Hiroshi Azuma 《Journal of medical case reports》2017,11(1):359
Background
Basal meningoceles are rare congenital defects and often clinically occult until they result in life-threatening complications. Therefore, it is important to know the diagnostic clues to early diagnosis.Case presentation
We describe three cases of congenital basal meningocele in a 3-year-old Japanese boy, a 1-month-old Japanese baby boy, and a 10-month-old Japanese baby girl. One of our patients died of sepsis due to traumatic rupture of the meningocele during nasal suction. His meningocele remained undiagnosed until it resulted in the fatal complication. The other patients underwent surgical repair without any complications. Their meningoceles were complicated by midfacial anomalies including cleft palate and hypertelorism, or a sign of nasal obstruction such as snoring.Conclusions
These clinical features may be a clue to the early diagnosis of congenital basal meningocele, which enables its safe preoperative management and provides an opportunity for surgical repair before the condition results in serious complications.2.
Hilde MH Braakman Jan Lodder Alida A Postma Lambert FR Span Werner H Mess 《BMC neurology》2010,10(1):30
Background
The aetiology of central nervous system lesions observed in cerebral cyclosporine neurotoxicity remains controversial.Case presentation
We report a 48-year-old woman with a non-severe aplastic anaemia who presented with stroke-like episodes while on cyclosporine treatment.Transcranial Doppler ultrasound revealed severely elevated flow velocities in several cerebral vessels, consistent with vasospasm. Immediately after reducing the cyclosporine dose, the stroke-like episodes disappeared. Only after cyclosporine withdrawal the transcranial Doppler ultrasound abnormalities fully resolved.Conclusions
This case demonstrates a significant role of vasospasm in the pathway of cyclosporine-induced neurotoxicity. Transcranial Doppler ultrasound is an effective tool for the diagnosis and follow-up of cyclosporine-induced vasospasm.3.
Background
Cholangiocarcinoma has poor prognosis and short term-survival. Here, we report the case of a patient with unusually prolonged survival.Case presentation
Our patient was a 56-year-old Arab man with a 6-month history of obstructive jaundice. A computed tomography scan of his abdomen revealed a mass at the confluence of the hepatic ducts with suspected malignant strictures on endoscopy. A positive tissue diagnosis was achieved more than 18 months after commencement of his symptoms. He remained functional throughout this period despite recurrent episodes of cholangitis.Conclusions
Cholangiocarcinoma is a presumably fatal disease, especially because patients tend to present late with unresectable disease. Many patient-related and disease-related factors may alter survival.4.
Ester Coutinho Ana M Silva Cláudia Freitas Ernestina Santos 《Journal of medical case reports》2011,5(1):68
Introduction
Pseudotumor cerebri is an entity characterized by elevated intracranial pressure with normal cerebrospinal fluid and no structural abnormalities detected on brain MRI scans. Common secondary causes include endocrine pathologies. Hyperthyroidism is very rarely associated and only three case reports have been published so far.Case presentation
We report the case of a 31-year-old Luso-African woman with clinical symptoms and laboratory confirmation of Graves' disease that presented as pseudotumor cerebri.Conclusion
This is a rare form of presentation of Graves' disease and a rare cause of pseudotumor cerebri. It should be remembered that hyperthyroidism is a potential cause of pseudotumor cerebri.5.
Background
Primary angiitis of the central nervous system is an idiopathic disorder characterized by vasculitis within the dural confines. The clinical presentation shows a wide variation and the course and the duration of disease are heterogeneous. This rare but treatable disease provides a diagnostic challenge owing to the lack of pathognomonic tests and the necessity of a histological confirmation.Case presentation
A 28-year-old patient presenting with headache and fluctuating signs of encephalopathy was treated on the assumption of viral meningoencephalitis. The course of the disease led to his death 10 days after hospital admission. Postmortem examination revealed primary angiitis of the central nervous system.Conclusion
Primary angiitis of the central nervous system should always be taken into consideration when suspected infectious inflammation of the central nervous system does not respond to treatment adequately. In order to confirm the diagnosis with the consequence of a modified therapy angiography and combined leptomeningeal and brain biopsy should be considered immediately.6.
Timothy Sakellaridis Stavros Mathioulakis Christos Antiochos 《International Seminars in Surgical Oncology : ISSO》2005,2(1):19
Background
Synchronous early primary cancers are rare and in addition synchronous adenocarcinoma of both rectum and gallbladder is extremely rare.Case report
We report an unusual case of synchronous early primary adenocarcinoma of rectum and gallbladder. The patient was a 72-year-old woman with complaints of bloody stools and constipation. An endoscopy revealed adenocarcinoma of the lower rectum. A through preoperative investigation showed also cholelithiasis. The patient underwent abdominoperineal resection and cholecystectomy. The histopathological diagnosis was well to middle differentiate adenocarcinoma of the gallbladder (T2, N0, M0; stage II) and middle differentiate adenocarcinoma of the rectum (T2, N0, M0; stage II).Conclusion
For the cases of extracolonic primary cancer associated with colorectal primary carcinoma, Warren and Gates' diagnostic criteria are used. All patients with colorectal carcinoma, should undergo a throughout preoperative examination to exclude the possibility of synchronous early primary cancers.7.
Andreas Hillenbrand Joern Sträter Doris Henne-Bruns 《International Seminars in Surgical Oncology : ISSO》2005,2(1):13
Background
We report a new case of small bowel metastases from primary lung cancer. Such metastases are not exceptional, but their clinical manifestations are rare.Case presentation
The case involved a 56-year-old man with a squamous cell carcinoma of the lung (stage IV) that had been treated with chemotherapy. He presented fourteen months after diagnosis with an acute abdominal pain. Abdominal CT-scan demonstrated a perforated jejunum and he underwent emergency surgery. Postoperative pathologic analysis confirmed the diagnosis of metastatic pulmonary carcinoma. The patient was discharged after ten days, but died 8 weeks after surgery at home on tumor progression.Conclusion
We were able to find 58 documented similar cases in the literature. Most cases presented with bowel perforation or obstruction. Squamous cell carcinoma was the most common histological cell type followed by large cell carcinoma. Other metastases are often present, and the prognosis is mostly fatal at short term.8.
Fernando César Toniazzi Lissa Juliana Sonego Argente Geórgia Nunes Antunes Franciani de Oliveira Basso Janara Furtado 《International Seminars in Surgical Oncology : ISSO》2009,6(1):2
Background
Maffucci syndrome, a congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, was first described in 1881, and 200 cases have been reported in the literature since then. Its etiology is unknown, there is no predilection for race or sex, and the development of lesions usually occurs in puberty. The risk of sarcomatous transformation is about 25%.Case presentation
The initial investigation of the case reported here focused on the diagnosis and treatment of malignancy, and the first diagnostic hypothesis was thrombosed hemangioma. After histopathologic confirmation of soft tissue sarcoma, examinations were performed to stage the tumor and enchondromas were found in ribs. The final diagnosis was Maffucci syndrome with malignant transformation.Conclusion
Treatment should aim at symptom relief and early detection of malignancies; no therapy is indicated for asymptomatic patients. As in the case reported here, bone or soft tissue lesions that grow or become painful should be biopsied.9.
Background
Multiple acyl-CoA dehydrogenase deficiency (MADD) showed great clinical heterogeneity and poses a challenge to diagnosis. Guillain-Barré syndrome (GBS) is an acute-onset autoimmune-mediated peripheral neuropathy. However, no patients of acute-onset MADD mimicking the GBS phenotype are reported previously.Case presentation
Two patients displayed acute-onset limb weakness, areflexia, and length-dependent sensory disturbances, which clinically indicate the diagnosis of GBS, but electrophysiological and cerebrospinal fluid results threw doubtful points to the initial diagnosis. The muscle biopsy showed lipid storage disorder; and compound heterozygous mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene were found in the two patients through targeted next generation sequencing, which provided the definite diagnostic evidences of late-onset MADD. Muscle weakness was quickly improved by riboflavin supplementation, but sensory disturbances required a long-term treatment.Discussion
The present two cases have demonstrated that MADD can mimic GBS. Taking into consideration the significant differences of therapeutic regimen and prognosis, MADD should be included in the differential diagnosis of GBS.10.
Mohamed Ali Essid Abderrazak Bouzouita Ahlem Blel Maroua Gharbi Marouen Chakroun Aycha Ben Miled Haroun Ayed Mohamed Cherif Mohamed Riadh Ben Slama Amine Derouiche Mohamed Chebil 《Journal of medical case reports》2018,12(1):376
Background
Intravascular papillary endothelial hyperplasia (known also as Masson’s tumor) is a benign vascular lesion that commonly occurs in the skin and is rarely found in solid organs, especially in the kidney. In what follows, we will look into the first case of an unexpectedly diagnosed Masson’s tumor of the kidney presenting as a suspicious renal cyst.Case presentation
A 61-year-old Arab man presented with a left renal cyst, incidentally revealed by ultrasonography. The laboratory values were unremarkable. Computed tomography and magnetic resonance imaging demonstrated a 38 mm left renal midportion Bosniak IV cyst. Our patient underwent a radical nephrectomy. Histopathology revealed the diagnosis of intravascular papillary endothelial hyperplasia. There was no recurrence detected after 9 years of follow-up.Conclusions
Renal intravascular papillary endothelial hyperplasia is a rare benign tumor which can mimic a suspicious renal mass on radiological findings. Thus, this entity should be considered more often in the thick of the diagnostic possibilities in order to avoid unnecessary nephrectomies.11.
Background
Epidermoid cyst is a benign tumor that can occur anywhere in the body but is rarely seen in the penis. Congenital and previous penile surgeries have been reported to be involved in the etiology of the disease, which is usually asymptomatic. Here we describe a case of a patient with a penile epidermoid cyst, which occurred in the circumcision line on the left side of his penis, and urethral dehiscence following hypospadias surgery.Case summary
A 3-year-old white boy who underwent primary distal hypospadias surgery 1.5?years ago presented with a slowly growing mass in the left ventrolateral portion of the penile circumcision line and urethral dehiscence. The histology of the excised mass revealed an epidermal inclusion cyst. Since then, he has remained healthy.Conclusions
Epidermal inclusion cyst as a complication of hypospadias surgery is a very rare situation. The diagnosis is made histologically and surgical excision is sufficient for treatment.12.
Hiromi Kanno-Okada Tomoko Mitsuhashi Katsuhiro Mabe Tadakazu Shimoda Yoshihiro Matsuno 《Diagnostic pathology》2017,12(1):85
Background
Although adenocarcinomas showing neuroendocrine differentiation or those mixed with high-grade neuroendocrine carcinoma (NEC) are sometimes encountered, composite tumors comprising neuroendocrine tumor (NET) Grade 1 and adenocarcinoma are exceedingly rare.Case presentation
A 64-year-old male presented after testing positive for fecal occult blood at a medical check-up. A biopsy demonstrated the presence of a NET and endoscopic submucosal dissection was undertaken. Histologic examination revealed that a well differentiated tubular adenocarcinoma was present in addition to the NET. Furthermore, histological transition between the two tumors was evident. Accordingly, this case was considered to be a composite tumor comprising NET and adenocarcinoma.Conclusion
Composite tumors consisting of NET Grade 1 and adenocarcinoma are exceedingly rare, and only a few examples have been reported hitherto.13.
Richard Tuli Brian J O'Hara Janet Hines Anne L Rosenberg 《International Seminars in Surgical Oncology : ISSO》2007,4(1):21
Background
Idiopathic granulomatous mastitis is an uncommon, benign entity with a diagnosis of exclusion. The typical clinical presentation of idiopathic granulomatous mastitis often mimics infection or malignancy. As a result, histopathological confirmation of idiopathic granulomatous mastitis combined with exclusion of infection, malignancy and other causes of granulomatous disease is absolutely necessary.Case Presentation
We present a case of a young woman with idiopathic granulomatous mastitis, initially mistaken for mastitis as well as breast carcinoma, and successfully treated with a course of corticosteroids.Conclusion
There is no clear clinical consensus regarding the ideal therapeutic management of idiopathic granulomatous mastitis. Treatment options include expectant management with spontaneous remission, corticosteroid therapy, immunosuppressive agents and extensive surgery for refractory cases.14.
Background
Percutaneous coronary intervention (PCI) is widely used to treat coronary artery disease (CAD). However, complications of PCI are inevitable. Internal mammary artery (IMA) injury is an infrequent but potentially lethal complication of PCI.Case presentation
A 78-year-old man was diagnosed with multivessel lesions by coronary angiography. The IMA was injured during PCI, then cured by early identification and active rescue.Conclusions
This is the first reported case, to our knowledge, of injury to the IMA during PCI. We we report this case to discuss how to treat this injury effectively and avoid this complication during clinical therapy.15.
Background
Gastric duplication cysts are uncommon congenital anomalies found primarily in children and rarely seen in the adult population. Accurate diagnosis of cysts before resection is difficult even using the most advanced imaging techniques.Case presentation
In this report, we describe a 28-year-old Moroccan patient with a history of autoimmune hemolytic anemia who presented with an asymptomatic abdominal cystic mass detected during abdominal computed tomography performed before splenectomy. Magnetic resonance imaging performed for accurate characterization showed a high-signal-intensity cystic mass on T2-weighted images, located between the patient’s stomach and spleen. The patient underwent a complete cyst resection during exploratory laparotomy. The histological examination showed a cyst lined by three different epithelia with bundles of smooth muscle, which suggested a gastric duplication cyst.Conclusions
We report a case of gastric cyst duplication in an adult with autoimmune hemolytic anemia, and we discuss this rare association, radiological findings, and the unique histological findings of this case.16.
Brent Berry Malik Ghannam Caitlin Bell Sami Ghazaleh Sherief Boss Christopher Streib Mustapha Ezzeddine 《BMC neurology》2018,18(1):204
Background
Intracranial hemorrhage is a rare but potentially severe complication of spinal surgery. Most reported post-operative ICH cases consist of cerebellar hemorrhage. There are fewer reported cases of supratentorial ICH following spinal surgery.Case presentation
A 56-year-old woman underwent spinal surgery complicated by bilateral supratentorial intraparenchymal basal ganglia hemorrhage with both intraventricular extension and subarachnoid hemorrhage in both cerebral hemispheres.Conclusion
The occurrence of neurological deterioration post-operatively following spinal surgery should alert physicians to the possibility of intracranial hemorrhage in order to facilitate rapid and optimal management. To our knowledge, this is the first case reporting basal ganglia hemorrhage following spinal surgery. Moreover, consideration should be given to the possibility of this complication prior to recommendation of elective spinal surgery.17.
Liying Wang Libin Liu Zhaohui Liu Yueli Tian Zhe Lin 《World journal of surgical oncology》2017,15(1):220
Background
Gastrointestinal stromal tumors (GISTs) rarely present with predominantly cystic changes. Here, we report a case of giant GIST of the stomach with predominantly cystic changes in a 74-year-old female patient.Case presentation
The tumor was 10 cm?×?15 cm in size and positive for CD117, H-caldesmon, and DOG-1. Complete surgical resection was performed without regional lymphadenectomy. The patient recovered uneventfully and no recurrence occurred.Conclusions
The case illustrates that GIST with cystic changes should be considered in the diagnoses of hepatic and pancreatic lesions. Furthermore, immunohistochemistry with CD117, DOG1, and other molecular markers is critical for diagnosis of GIST of the stomach and facilitates optimization of treatments for GIST.18.
Michael Safioleas Michael Stamatakos Panagiotis Safioleas Anastasios Smyrnis Constantinos Revenas Constantinos Safioleas 《International Seminars in Surgical Oncology : ISSO》2008,5(1):12
Purpose
Mirizzi syndrome is a rare complication of long standing cholelithiasis. The purpose of this study is to retrospectively estimate the diagnostic and treatment methods applied in patients with Mirizzi syndrome.Materials and methods
Our experience with 27 cases with Mirizzi syndrome is presented. They were diagnosed either by imaging techniques, or during surgical operation. All of the patients were managed surgically.Results
8 patients were diagnosed preoperatively and the rest intraoperatively. Morbidity rate after surgery was 18,5%, and mortality rate was zero. The patients presented free of symptoms three months after surgery during the follow-up.Conclusion
Mirizzi syndrome is rarely diagnosed preoperatively and US proved inadequate for this purpose. Surgery is the only therapy and usually provides additionally definitive diagnosis.19.
Haiyang Zhou Xinhuan Liang Yingfen Qing Bihui Meng Jia Zhou Song Huang Shurong Lu Zhenxing Huang Haiyan Yang Yan Ma Zuojie Luo 《BMC endocrine disorders》2018,18(1):82
Background
Gitelman syndrome (GS) is an inherited autosomal recessive renal tubular disorder characterized by low levels of potassium and magnesium in the blood, decreased excretion of calcium in the urine, and elevated blood pH. GS is caused by an inactivating mutation in the SLC12A3 gene, which is located on the long arm of chromosome 16 (16q13) and encodes a thiazide-sensitive sodium chloride cotransporter (NCCT).Case presentation
A 45-year-old man with Graves’ disease complicated by paroxysmal limb paralysis had a diagnosis of thyrotoxic periodic paralysis for 12 years. However, his serum potassium level remained low despite sufficiently large doses of potassium supplementation. Finally, gene analysis revealed a homozygous mutation in the SLC12A3 gene. After his thyroid function gradually returned to normal, his serum potassium level remained low, but his paroxysmal limb paralysis resolved.Conclusions
GS combined with hyperthyroidism can manifest as frequent episodes of periodic paralysis; to date, this comorbidity has been reported only in eastern Asian populations. This case prompted us to more seriously consider the possibility of GS associated with thyroid dysfunction.20.
Stella Bernardi Andrea Michelli Deborah Bonazza Veronica Calabrò Fabrizio Zanconati Gabriele Pozzato Bruno Fabris 《BMC endocrine disorders》2018,18(1):86