OpenMed/multicare-articles huggingface dataset:
Rare Reported Left Hepatic Subcapsular Biloma and Management
Authors: Sarah Brown, Pablo Giuseppucci, Christopher Esper
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Subcapsular bilomas are a rare complication of laparoscopic cholecystectomy and an even more rare occurrence to occur spontaneously. We present a case of left sided subcapsular biloma following a laparoscopic cholecystectomy. The location of the biloma was unrelated to our area of dissection. The operation was without difficult dissection or pressurization of the biliary tree. In addition, we present percutaneous drainage alone, without ERCP as adequate management in subcapsular bilomas.
Case report: a precancerous lesion associated with HPV in the anal canal diagnosed by magnifying endoscopy with narrow-band imaging and resected by endoscopic submucosal dissection
Authors: Hengcun Li, Xiujing Sun, Ling Yang, Rui Xu, Peng Li
Journal: Front Med (Lausanne) (2023)
Keywords: esd, hsil, me-nbi, anal canal, case report
MeSH terms: Case Reports

Although anal cancer remains rarely diagnosed in the world, its frequency is rising, especially in high-risk groups. The prognosis of advanced anal cancer is poor. However, there are still few reports on the endoscopic diagnosis and treatment of early anal cancer and its precancerous lesions. A 60-year-old woman was referred to our hospital for endoscopic treatment of a flat precancerous lesion in the anal canal, which was identified by narrow-band imaging (NBI) and confirmed by pathological examination in another hospital. The pathological results showed a high-grade squamous intraepithelial lesion (HSIL) in the biopsy specimen, and immunochemistry staining showed P16 positive, suggesting HPV infection. We performed pre-resection endoscopic examination for the patient. A lesion with a clear margin and tortuous dilated vessels was revealed under magnifying endoscopy with NBI (ME-NBI), which stayed unstained after iodine spraying. The lesion was successfully removed en bloc using ESD without complications, and the resected specimen was a low-grade squamous intraepithelial lesion (LSIL) with positive immunochemistry staining of P16. The patient underwent follow-up coloscopy a year after ESD, and the anal canal healed well with no suspicious lesions found. From this case, we can learn that ESD is safe and effective for curative resection of precancerous lesions of the anal canal.
Granulocytic sarcoma of the breast in acute myeloid leukemia: Two case reports
Authors: Jianfei Fu, Jiansheng Luo
Journal: Oncol Lett (2014)
Keywords: breast, granulocytic sarcoma, myeloid leukemia

Granulocytic sarcoma (GS) of the breast is extremely rare in patients with acute myeloid leukemia (AML) and therefore, is often misdiagnosed as lymphoma or other benign tumors. The current report presents two cases of GS of the breast, of which, one was considered to be a fibroma, as observed by fine-needle aspiration, and the other was misdiagnosed as lymphoma by frozen section. Previous literature that described the clinical and pathological characteristics, treatments and prognosis of GS of the breast in AML were reviewed. In addition to the treatment of mastectomy with/without radiotherapy, lumpectomy may also be received as a good treatment plan.
Ewing sarcoma/primitive neuroectodermal tumor of the kidney: two unusual presentations of a rare tumor
Authors: E C Castro, A V Parwani
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Only few cases of primary renal Ewing's sarcoma have been reported in the literature to date. We present here two cases of renal ES/PNET with an uncanny presentation. The first case was discovered after the patient presented clinically with irradiating flank pain, mimicking the pain related with kidney stones. The second case had clinical presentation of pulmonary thromboembolism after the patient was involved in an automobilist accident. The tumors were mainly composed of small blue cells which by immunohistochemical were positive for neural markers, and FISH revealed the translocation 22q12 for the EWSR1 gene. The diagnosis of renal primitive neuroectodermal tumor/EWING tumor is very rare and usually involves several different diagnostic techniques. The differential diagnosis is usually broad with frequent overlapping features between the entities. The cases presented in this paper illustrated the difficulties with which routine anatomical pathologist is faced when dealing with rare renal poorly differentiated neoplasm in adults.
Workplace inhalant abuse in adult female: brief report
Authors: Rohit Verma, Yatan Pal Singh Balhara, Smita N Deshpande
Journal: Case Rep Psychiatry (2011)
MeSH terms: Case Reports

Inhalant abuse is the purposeful inhalation of intoxicating gases and vapors for the purpose of achieving an altered mental state. With its propensity for being yet an under-recognized form of substance use, being gateway to hard substances, cross-cultural penetration crossing socioeconomic boundaries, and causing significant morbidity and mortality in early ages, the prevention of inhalant misuse is a highly pertinent issue. This clinical report identifies a newer perspective in the emergence of inhalant abuse initiation. We report a case of an adult female with late onset of inhalant dependence developing at workplace and recommend for greater awareness, prevention, and management of this expanding substance abuse problem.
Severe Metformin Poisoning Successfully Treated with Simultaneous Venovenous Hemofiltration and Prolonged Intermittent Hemodialysis
Authors: Dovile Leonaviciute, Bo Madsen, Anne Schmedes, Niels H Buus, Bodil S Rasmussen
Journal: Case Rep Crit Care (2018)
MeSH terms: Case Reports

Metformin poisoning is a life-threatening condition with a high mortality rate. We present a patient case of metformin poisoning following intake of 80 g metformin resulting in severe lactate acidosis with a nadir pH of 6.73 and circulatory collapse, successfully treated with addition of prolonged intermittent hemodialysis (HD) to continuous venovenous hemofiltration (CVVH). The patient's pH became normal 48 hours after metformin ingestion during simultaneous CVVH and addition of 22 hours of intermittent HD in the ICU. The highest metformin level was found to be 991 μmol/L (therapeutic range 3.9-23.2 μmol/L). We conclude that in cases of severe metformin poisoning with circulatory shock and extreme lactic acidosis, the usual CVVH modality might not efficiently clear metformin. Therefore, additional prolonged HD should be considered even in the state of cardiovascular collapse with vasopressor requirement.
HMB-45 negative angiomyolipoma of the orbit: a case report and review of the literature
Authors: Che-Yu Lin, Chieh-Chih Tsai, Hui-Chuan Kau, Wei-Kuang Yu, Shu-Ching Kao, Catherine Jui-Ling Liu
Journal: BMC Ophthalmol (2016)
MeSH terms: Angiomyolipoma / metabolism, Biomarkers, Tumor / metabolism, Melanoma-Specific Antigens / metabolism, Orbital Neoplasms / metabolism, Case Reports, Research Support, Non-U.S. Gov't, Review, Aged, 80 and over, Angiomyolipoma / diagnostic imaging, Angiomyolipoma / pathology, Antigens, CD34 / metabolism, Biopsy, Humans, Immunohistochemistry, MART-1 Antigen / metabolism, Orbital Neoplasms / diagnostic imaging, Orbital Neoplasms / pathology, Tomography, X-Ray Computed, gp100 Melanoma Antigen, Antigens, CD34, Biomarkers, Tumor, MART-1 Antigen, MLANA protein, human, Melanoma-Specific Antigens, PMEL protein, human, gp100 Melanoma Antigen

Background:
Angiomyolipoma is a benign mesenchymal tumor composed of variable amounts of smooth muscle, adipose tissue and thick-walled blood vessels, and usually named PEComas (perivascular epithelioid cell tumors). PEComas share overlapping histopathological features with epithelioid cells along a perivascular distribution and characteristic immunohistochemistry with coexpression of myoid and melanocytic markers (HMB-45 /or Melan-A). We report the first case of primary orbital angiomyolipoma with negative melanocytic marker.
Case presentation:
An 80-year-old Asian woman had a 2-year history of progressive swelling in the left upper eyelid. External examination revealed 3 cm of relative proptosis of the left eye and a palpable mass in the left superonasal orbit. Computed tomographic scan demonstrated a circumscribed, heterogeneous orbital mass. Excision biopsy was done and the histological finding demonstrated the orbital mass was composed of mature adipocytes, intermingled with spindle or oval-shaped cells, and accompanied by thick-walled blood vessels. Immunohistochemically, tumor cells were positive for CD34 and HHF-35, but negative for cytokeratin, HMB-45 and Melan-A. The diagnosis of angiomyolipoma was made. No recurrence was noted at 2-year follow-up.
Conclusion:
In our case, the HMB-45 negativity may be explained by the rarity of the epithelioid cells, and the HMB-45 positivity is often weaker or absent in spindle cells. Angiomyolipoma, although rare, should be added to the differential diagnosis of space-occupying orbital lesion.
Liver abscess complicated with multiple organ invasive infection caused by hematogenous disseminated hypervirulent Klebsiella pneumoniae: A case report
Authors: Qingyun Chen, Ye Zhang, Lei Zhang, Shaojing Xian, Linhui Huang, Xiuxiu Ding, Hua Wu, Han Xia, Xuying Yang, Xingjun Cai
Journal: Open Med (Wars) (2023)
Keywords: hematogenous dissemination, hypervirulent klebsiella pneumoniae, liver abscess, metastatic infection, multiple organ invasive infection
MeSH terms: Case Reports

Hypervirulent Klebsiella pneumoniae (hvKp) causes increasing infections in healthy individuals from the community. In severe cases, it can cause multiple organ infection with invasive metastasis of blood sources, seriously threatening the patients' life. Rapid and accurate diagnosis of the pathogen becomes the key to timely antibiotic treatment to improve the prognosis. This article reports a case of liver abscess complicated with multiple organ invasive infection caused by hematogenous-disseminated hvKp. K. pneumoniae was identified by culture and metagenomic next-generation sequencing (mNGS) using blood and liver abscess drainage fluid. The isolates from the two samples were subsequently identified with high homology (99.999%) by whole genome sequencing. In addition, multiple virulence genes were detected in the two isolates and the string test was positive, indicating hvKp with hypermucoviscosity phenotype. Multiple antibiotic treatments were given. The conditions of the patient were stable but the temperature remained high. Surgical drainage treatment was performed, and the patient's body temperature immediately dropped to normal. He finally recovered after 6 months of follow-up. mNGS using body fluids can facilitate the rapid diagnosis of pathogens. For hvKp infection, choosing a better antibiotic therapy and receiving surgical drainage can significantly improve the prognosis of the patient.
Middle Ear Ceruminous Gland Adenoma Obstructing the Eustachian Tube Orifice
Authors: Hamin Jeong, Haemin Noh, Chang-Hee Kim
Journal: Case Rep Otolaryngol (2021)
MeSH terms: Case Reports

Ceruminous glands are located in the skin of the cartilaginous portion of the external auditory canal, and ceruminous gland adenoma originating from the middle ear mucosa is extremely rare. We report a case of middle ear ceruminous gland adenoma which caused long-standing otomastoiditis and mixed hearing loss with a large air-bone gap by obstructing the bony Eustachian tube. We discuss the clinical characteristics and histologic features of the present case.
Case report: Reversible brain atrophy with low titer anti-amphiphysin antibodies related to gastric adenocarcinoma
Authors: Ryota Amano, Yeon-Jeong Kim, Toshikazu Yoshida, Makoto Hara, Hideto Nakajima, Toshihisa Ohtsuka, Masanobu Yazawa
Journal: Front Neurol (2023)
Keywords: anti-amphiphysin syndrome, brain atrophy, encephalopathy, immunoprecipitation, neuropathy, paraneoplastic neurological syndrome
MeSH terms: Case Reports

Amphiphysin (AMPH) autoimmunity is associated with a variety of neurological complications, including encephalitis, peripheral neuropathy, myelopathy, and cerebellar syndrome. Its diagnosis is based on clinical neurological deficits and the presence of serum anti-AMPH antibodies. Active immunotherapy, such as intravenous immunoglobulins, steroids, and other immunosuppressive therapies, has been reported to be effective in most patients. However, the extent of recovery varies depending on the case. Herein, we report the case of a 75-year-old woman with semi-rapidly progressive systemic tremors, visual hallucinations, and irritability. Upon hospitalization, she developed a mild fever and cognitive impairment. Brain magnetic resonance imaging (MRI) showed semi-rapidly progressive diffuse cerebral atrophy (DCA) over 3 months, while no clear abnormal intensities were observed. The nerve conduction study revealed sensory and motor neuropathy in the limbs. The fixed tissue-based assay (TBA) failed to detect antineuronal antibodies; however, based on commercial immunoblots, the presence of anti-AMPH antibodies was suspected. Therefore, serum immunoprecipitation was performed, which confirmed the presence of anti-AMPH antibodies. The patient also had gastric adenocarcinoma. High-dose methylprednisolone, and intravenous immunoglobulin were administered and tumor resection was performed, resulting in resolution of the cognitive impairment and improvement in the DCA on the post-treatment MRI. After immunotherapy and tumor resection, the patient's serum was analyzed using immunoprecipitation, which showed a decrease in the level of anti-AMPH antibodies. This case is noteworthy because the DCA showed improvement after immunotherapy and tumor resection. Additionally, this case demonstrates that negative TBA with positive commercial immunoblots do not necessarily indicate false positive results.
Behcet's Disease with Upper GI Bleeding
Authors: Melaku Getachew, Nebiyou Seyoum, Finot Debebe
Journal: Case Rep Emerg Med (2020)
MeSH terms: Case Reports

Introduction. Behcet's disease is a multisystem disease. In sub-Saharan Africa, the prevalence of this disease is not known, with only one case report from Ethiopia. Case Presentation. We describe a case of a 29-year-old Ethiopian male who presented to the emergency room of Tikur Anbessa specialized hospital with 4 days history of back pain, recurrent history of oral and genital ulcers, right eye blindness, chronic cerebral vein thrombosis, gastrointestinal bleeding, aortic aneurysm with dissection, and positive pathergy test. He is retrospectively diagnosed with Behcet's disease according to both the International Criteria for Behcet's Disease (ICBD) and the International Study Group (ISG) consensus. Conclusion. Even if Behcet's disease is rare in sub-Saharan Africa, it is important to know the clinical presentation for timely diagnosis and urgent management.
SARS-COV-2 Infection and Kawasaki Disease: Case Report of a Hitherto Unrecognized Association
Authors: Marco Cazzaniga, Lucia Augusta Baselli, Rolando Cimaz, Sophie Suzanne Guez, Raffaella Pinzani, Rosa Maria Dellepiane
Journal: Front Pediatr (2020)
Keywords: kawasaki disease, sars-cov-2, children, cytokine storm, paralytic ileus
MeSH terms: Case Reports

Coronavirus-associated disease (COVID-19) was firstly reported at the end of 2019. Generally, COVID-19 seems to be a less severe disease in children than in adults. According to the current literature, children account approximately for 2% of diagnosed COVID-19 cases. Northern Italy is one of the geographical areas mainly affected by the ongoing COVID-19 pandemic. We describe a pediatric patient diagnosed and treated for atypical/incomplete Kawasaki Disease (KD) complicated with paralytic ileus, who also resulted positive for SARS-COV-2.
A Unique Case for Spinal Cord Stimulation: Successful Treatment of Small Fiber Neuropathy Pain Using Multiple Spinal Cord Stimulators
Authors: Maxim Eckmann, Alexander Papanastassiou, Mark Awad
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Spinal cord stimulators have commonly been used to treat multiple pain conditions. This case report represents a unique case of using multiple spinal cord stimulators for widespread small fiber neuropathy pain. This case report concerns patient JJ who first presented with generalized neuropathic pain. His pain was an intermittent burning, stinging quality that originally focused in both of his feet and progressed to include his legs and arms and eventually involved his entire body. The pain would last moments to hours at least daily. He reported a poor quality of life. He was diagnosed with small fiber neuropathy with anhydrosis, suggestive of idiopathic erythromelalgia. He had a spinal cord stimulator trial involving both cervical and lower thoracic percutaneous leads. After two spinal cord stimulators were implanted, the patient began to report an improvement in pain. The patient continues to report excellent pain relief. The patient uses the stimulator intermittently as needed, in an abortive fashion for pain flares. The patient is very pleased and has increased his activity. He now attends graduate school full time. This case report hopes to illustrate a unique use of multiple spinal cord stimulators in treating widespread neuropathic pain caused by small fiber neuropathy.
CMV-Related Gastric Ulcer and Gastroduodenitis in an Immunocompetent Patient: A Case Report and Literature Review
Authors: Andrawus Beany, Tova Rainis
Journal: Case Rep Gastrointest Med (2021)
MeSH terms: Case Reports

Background:
Cytomegalovirus (CMV)- related gastroduodenal infection is rare in immunocompetent hosts, and although it is considered a self-limiting condition in most cases, there is scarce literature to assert its management. Case Presentation. We report a case of a 66-year-old immunocompetent male patient diagnosed with a giant gastric ulcer caused by CMV infection. The ulcer manifested as refractory vomiting and melena. Rapid and full resolution was observed on proton-pump inhibitor (PPI) monotherapy.
Conclusion:
Gastric CMV infection might mimic an advanced gastric tumor in individuals with an intact immune system. The condition is rare, and the diagnosis is challenging and oftentimes overlooked. However, a rapid resolution has been documented in all cases, even without antiviral therapy.
Dermatofibrosarcoma protuberans, a rare but locally aggressive tumor on finger: clinical and aeromedical considerations
Authors: Kwo-Tsao Chiang, Shih-Yu Lee, Hsin Chu
Journal: Case Reports Plast Surg Hand Surg (2015)
Keywords: dermatofibrosarcoma protuberans, mohs surgery, aeromedical disposition, waiver
MeSH terms: Case Reports

Dermatofibrosarcoma protuberans (DFSP) is a rare, slow growing, locally infiltrative tumor of intermediate malignancy. It is mostly found on the trunk and head, rarely on hands. The course of evaluation and treatment of a young pilot with DFSP on left middle finger is reported. The clinical issues and aeromedical considerations of this rare tumor is discussed.
Use of Scrambler Therapy in Acute Paediatric Pain: A Case Report and Review of the Literature
Authors: Sabrina Congedi, Silvia Spadini, Chiara Di Pede, Martina Ometto, Tatiana Franceschi, Valentina De Tommasi, Caterina Agosto, Pierina Lazzarin, Franca Benini
Journal: Case Rep Pediatr (2016)

We report our clinical experience on the effect of Scrambler Therapy (ST) for a child with acute mixed pain refractory to pharmacological treatment. ST, recently proposed as an alternative treatment for chronic neuropathic pain in adults, is a noninvasive approach to relieve pain, by changing pain perception at brain level. It is safe and has no side effects. Further research is needed to assess its efficacy for acute pain and for paediatric population.
Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants
Authors: Nivedita U Jerath
Journal: Case Rep Med (2022)
MeSH terms: Case Reports

This study presents the clinical and electrophysiological findings of four subjects with a pathogenic heterozygous GDAP1 variant causing Charcot-Marie-Tooth disease 2K (CMT2K) and one additional subject with an uncertain GDAP1 variant and clinical findings of CMT 2K. The study evaluated these five subjects using clinical, laboratory, electrophysiological, and genetic testing. The findings showed that clinical features demonstrated no pes cavus, no significant weakness in the hands or feet, normal reflexes in four out of the five subjects, and mild to normal electrodiagnostic findings. The variant was associated with painful and numb feet with diminished sensation to pinprick. This study suggests that GDAP1 variants may be associated with very mild, predominantly sensory Charcot-Marie-Tooth disease, warranting continuing research for this type of the disease.
Recurrence of Pemphigus Vulgaris Under Nivolumab Therapy
Authors: Sebastian Krammer, Christian Krammer, Suzanna Salzer, Işin Sinem Bağci, Lars E French, Daniela Hartmann
Journal: Front Med (Lausanne) (2019)
Keywords: nsclc, pd-1, autoimmune disease, autoimmune vesiculobullous disease, checkpoint inhibitors, confocal microscopy, nivolumab, pemphigus vulgaris
MeSH terms: Case Reports

For many types of cancer, immune checkpoint inhibitors have proven to be a highly effective treatment. The monoclonal anti-PD-1 antibody nivolumab stimulates the immune system and is one of the newest treatment options for non-small cell lung cancer. In doing so, immune checkpoint inhibitors can trigger many skin lesions that have not yet been completely investigated in their entirety. In this case report, pemphigus vulgaris is identified as a potential adverse event that occurs under the treatment with nivolumab. In addition to the standard methods, we examined our patient's samples with ex vivo confocal laser scanning microscopy. This is a new and innovative diagnostic method that uses vertical scanning to provide fast, high-resolution imaging of freshly excised tissue, even using fluorescently labeled antibodies.
Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder
Authors: Yinghong Lu, Yi Liang, Sisi Ning, Guosheng Deng, Yuling Xie, Jujie Song, Na Zuo, Chunfeng Feng, Yunrong Qin
Journal: Mol Cytogenet (2020)
Keywords: 15q duplication related disorders, copy number variation sequencing, developmental delay, partial trisomy and tetrasomy of 15q11-q13, small supernumerary marker chromosomes
MeSH terms: Case Reports

Background:
Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can't be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC carriers. Duplication of chromosome 15 and related disorders, characterized by hypotonia motor delays, autism spectrum disorder (ASD), intellectual disability, and epilepsy including infantile spasms, might be account for 50% of the total sSMCs.
Case presentation:
An 11-month-old infant with an sSMC found by banding cytogenetics was referred to our clinic because of developmental retardation and autism spectrum disorder. After several months of rehabilitation treatment, the progress of motor development was obvious, but the consciousness was still far from satisfied. High-resolution karyotype analysis, multiplex ligation-dependent probe amplification and copy number variation sequencing (CNV-Seq) were conducted to confirm the identity of the sSMC. A bisatellited dicentric sSMC was observed clearly in high-resolution karyotype analysis and a 10.16-Mb duplication of 15q11.1q13.2 (3.96 copies) together with a 1.84-Mb duplication of 15q13.2q13.3 (3 copies) was showed by CNV-Seq in the proband. It suggested that the molecular cytogenetic karyotype was 47,XY,+dic(15;15)(q13.2;q13.3). Furthermore, the clinical symptoms of the proband mostly fit 15q duplication related disorders which are characterized by hypotonia motor delays, autism spectrum disorder (ASD), and intellectual disability.
Conclusion:
We reported for the first time using CNV-Seq to detect sSMCs and find a partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder. Our report indicates that CNV-seq is a useful and economical way for diagnosis of dup15q and related disorders.