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1.
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.2.
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.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.
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.5.
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.6.
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.7.
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.8.
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.9.
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.10.
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.11.
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.12.
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.13.
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.14.
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.15.
Background
Secondary pallidonigral transneuronal degeneration after a remote primary cerebral infarct can mimic recurrent stroke at clinical presentation. We describe a patient with secondary pallidonigral degeneration following a previous putaminal infarct, which was diagnosed through diffusion-weighted (DWI) and T2-weighted imaging (T2WI).Case presentation
A 64-year-old man complained of an acute relapse of right-lower-limb weakness following a cerebral infarction 2 months before presentation. Recurrent cerebral stroke was initially diagnosed in the emergency room. DWI of the brain revealed a subacute to chronic infarct in the left putamen and new acute cytotoxic edema in the left substantia nigra (SN) and globus pallidus while T2WI also showed hyperintensity in the same regions. The SN was outside the aforementioned middle cerebral arterial territory, which includes the putamen. These findings are compatible with the diagnosis of acute pallidonigral injury secondary to striatal infarction. The patient had fully recovered from his right-lower-limb weakness after 1 month.Conclusions
Secondary pallidonigral degeneration may mimic recurrent stroke. DWI along with T2WI facilitates elucidation of this clinicopathological entity, and thus unnecessary treatment can be avoided.16.
Shayne Mason A. Marceline Tutu van Furth Regan Solomons Ron A. Wevers Mari van Reenen Carolus J. Reinecke 《Metabolomics : Official journal of the Metabolomic Society》2016,12(7):110
Introduction
Tuberculous meningitis (TBM) is a severe manifestation of tuberculosis, presenting with high morbidity and mortality in children. Existing diagnostic methods for TBM are invasive and time-consuming and the need for highly sensitive and selective diagnosis remains high on the TBM agenda.Objective
Our aim was to exploit metabolomics as an approach to identify metabolites as potential diagnostic predictors for children with TBM through a non-invasive means.Methods
Urine samples selected for this study were from three paediatric groups: patients with confirmed TBM (n = 12), patients clinically suspected with TBM but later confirmed to be negative (n = 19) and age-matched controls (n = 29). Metabolomics data were generated through gas chromatography–mass spectrometry analysis and important metabolites were identified according to standard statistical procedures used for metabolomics data.Results
A global metabolite profile that characterized TBM was developed from the data, reflecting the host and microbial responses. Nine different logistic regression models were fitted to selected metabolites for the best combination as predictors for TBM. Four metabolites—methylcitric, 2-ketoglutaric, quinolinic and 4-hydroxyhippuric acids—showed excellent diagnostic ability and provided prognostic insight into our TBM patients.Conclusions
This study is the first to illustrate holistically the metabolic complexity of TBM and provided proof-of-concept that a biosignature of urinary metabolites can be defined for non-invasive diagnosis and prognosis of paediatric TBM patients. The biosignature should be developed and validated through future prospective studies to generate a medical algorithm for diagnosis in the initial stages of the disease and for monitoring of treatment strategies.17.
Background
Benign fibrous histiocytomas (BFH) usually presents as a small benign lesion that predominantly occurs in the skin. Only few cases of BFH arising from bone have been reported, its occurrence in pelvic bones is even rarer.Case presentation
A 34-year-old female presented with BFH at a rare anatomical location on both sides of the os ilium which was larger than earlier reported BFH of the bone. Surgical resection was performed successfully including resection of the inner pelvic ring and reconstruction of the linea terminalis using a non-vascularized fibular autograft. At 18 months after tumor resection and reconstruction of the pelvic ring, with interposition of a free vascularized fibula graft patient has an excellent clinical oncological and functional outcome.Conclusion
Non vascularized fibular autograft is a useful reconstructive procedure in select patients.18.
Stella Bernardi Andrea Michelli Deborah Bonazza Veronica Calabrò Fabrizio Zanconati Gabriele Pozzato Bruno Fabris 《BMC endocrine disorders》2018,18(1):86
Background
Thyroid lymphomas are an exceptional finding in patients with thyroid nodules. Burkitt’s lymphoma is one of the rarest and most aggressive forms of thyroid lymphomas, and its prognosis depends on the earliness of medical treatment. Given the rarity of this disease, making a prompt diagnosis can be challenging. For instance, fine-needle aspiration (FNA) cytology, which is the first-line diagnostic test that is performed in patients with thyroid nodules, is often not diagnostic in cases of thyroid lymphomas, with subsequent delay of the start of therapy.Case presentation
Here we report the case of a 52-year-old woman presenting with a rapidly enlarging thyroid mass. Thyroid ultrasonography demonstrated a solid hypoechoic nodule. FNA cytology was only suggestive of a lymphoproliferative disorder and did not provide a definitive diagnosis. It is core needle biopsy (CNB) that helped us to overcome the limitations of routine FNA cytology, showing the presence of thyroid Burkitt’s lymphoma. Subsequent staging demonstrated bone marrow involvement. The early start of an intensive multi-agent chemotherapy resulted in complete disease remission. At 60 months after the diagnosis, the patient is alive and has not had any recurrence.Conclusions
Clinicians should be aware that thyroid Burkitt’s lymphoma is an aggressive disease that needs to be treated with multi-agent chemotherapy as soon as possible. To diagnose it promptly, they should consider to order/perform a CNB in any patient with a rapidly enlarging thyroid mass that is suspicious for lymphoma.19.
Background
This aim of this case report is to raise awareness of ureteral endometriosis in women of reproductive age with hydronephrosis in the absence of urolithiasis to enable early diagnosis and prevent loss of renal function.Case presentation
A 44-year-old Asian woman presented with a 4-year history of cyclic right flank pain and right hydronephrosis during menstruation. Despite several evaluations by physicians, including gynecologists, the cause of her symptoms was not diagnosed. On transvaginal ultrasonography, the uterus was observed deviated to the right, with a nodular lesion at the right uterosacral ligament, and the right ovary was attached to the uterus with no apparent cystic lesion. Magnetic resonance imaging showed a mass in the right uterine wall and mild wall thickening with delayed enhancement of the right distal ureter. Right ureteral endometriosis was suspected. Diagnostic laparoscopy revealed narrowing of the distal right ureter between the right uterosacral ligament and the right ovary with adhesions caused by deep infiltrating endometriosis. The adhesion bands and infiltrating endometriosis around the right ureter were dissected.Conclusions
The nonspecific symptoms of ureteral endometriosis can result in incorrect diagnosis, with renal damage as a result of prolonged hydronephrosis. A high index of suspicion and use of imaging modalities enable earlier diagnosis and preservation of renal function.20.
Qiong Xu Chun-yang Li Yi Wang Hui-ping Li Bing-bing Wu Yong-hui Jiang 《BMC medical genomics》2018,11(1):92