OpenMed/multicare-articles huggingface dataset:
Primary parotid lymphoepithelial carcinoma: A case report and literature review of a rare pathological entity
Authors: Ashley Whelan, Ahmed A Al-Sayed, Martin Bullock, S Mark Taylor
Journal: Int J Surg Case Rep (2020)
Keywords: ebv neoplasms, lymphoepithelial carcinoma, malignant parotid neoplasms, malignant salivary gland neoplasms
MeSH terms: Case Reports

Background:
Lymphoepithelial carcinoma (LEC) of the salivary glands is a rare, but distinct, poorly-differentiated neoplasm that resembles undifferentiated nasopharyngeal carcinomas (NPC). Among primary salivary gland LECs, they most commonly arise in the parotid gland. These lesions have a noticeable racial predilection, mostly occurring in Asians and Arctic region native populations. They are strongly associated with Epstein-Barr virus (EBV), and are more common in EBV-endemic areas. The most common presenting symptoms of primary parotid LEC are parotid mass development and cervical lymphadenopathy. We report an unusual case of EBV-negative LEC in a Canadian Caucasian woman.
Case presentation:
A 40-year-old female from Atlantic Canada presented with a rapidly enlarging preauricular mass and cervical lymphadenopathy. Preoperative diagnostics via radiology and fine needle aspiration alluded to an ambiguous primary parotid malignancy. She underwent a total parotidectomy with facial nerve sacrifice and ipsilateral selective neck dissection. The facial nerve was reconstructed with a lateral antecubital nerve graft. Pathology came back positive for LEC, and she began adjuvant radiotherapy. At her 1-year follow up, she was disease-free and obtained a House-Brackmann facial nerve function grade of 3.
Conclusions:
The case report highlights the importance of having a high index of suspicion and the need for interdisciplinary collaboration in reaching the diagnosis of primary parotid LEC. LEC can afflict patients of any ethnicity in non-EBV endemic areas and should therefore be considered in all patients with a painless parotid mass regardless of ethnicity. Further studies are required to elucidate the oncogenic role of EBV in these cancers.
Cerebral Ischemia due to Aortic Arch Thrombosis Secondary to Iron Deficiency Anemia
Authors: Taha Nisar, Rajanigandhi Hanumanthu
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

Thrombocytosis, hypercoagulable state, and hypoxia secondary to anemia are some of the mechanisms that are thought to cause strokes in patients with iron deficiency anemia (IDA). Several cases of middle-aged females with IDA who had embolic strokes due to aortic arch thrombosis have been reported. Majority of the cases were treated with anticoagulation. We report another case of embolic strokes in a patient with IDA treated with anticoagulation and iron replacement without recurrence of further episodes. We concluded that embolic phenomenon in middle-aged females with IDA warrants transesophageal echocardiogram with an evaluation of aortic arch.
Paired tumor and normal whole genome sequencing of metastatic olfactory neuroblastoma
Authors: Glen J Weiss, Winnie S Liang, Tyler Izatt, Shilpi Arora, Irene Cherni, Robert N Raju, Galen Hostetter, Ahmet Kurdoglu, Alexis Christoforides, Shripad Sinari, Angela S Baker, Raghu Metpally, Waibhav D Tembe, Lori Phillips, Daniel D Von Hoff, David W Craig, John D Carpten
Journal: PLoS One (2012)
MeSH terms: Esthesioneuroblastoma, Olfactory / genetics, Genetic Variation, Genome / genetics, Nasal Cavity, Neoplasm Metastasis / genetics, Nose Neoplasms / genetics, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Adult, Base Sequence, DNA Copy Number Variations, Gene Library, Genes, Neoplasm / genetics, Humans, Male, Molecular Sequence Data, Mutation / genetics, Polymorphism, Single Nucleotide, Sequence Analysis, DNA

Background:
Olfactory neuroblastoma (ONB) is a rare cancer of the sinonasal tract with little molecular characterization. We performed whole genome sequencing (WGS) on paired normal and tumor DNA from a patient with metastatic-ONB to identify the somatic alterations that might be drivers of tumorigenesis and/or metastatic progression.
Methodology/principal findings:
Genomic DNA was isolated from fresh frozen tissue from a metastatic lesion and whole blood, followed by WGS at >30X depth, alignment and mapping, and mutation analyses. Sanger sequencing was used to confirm selected mutations. Sixty-two somatic short nucleotide variants (SNVs) and five deletions were identified inside coding regions, each causing a non-synonymous DNA sequence change. We selected seven SNVs and validated them by Sanger sequencing. In the metastatic ONB samples collected several months prior to WGS, all seven mutations were present. However, in the original surgical resection specimen (prior to evidence of metastatic disease), mutations in KDR, MYC, SIN3B, and NLRC4 genes were not present, suggesting that these were acquired with disease progression and/or as a result of post-treatment effects.
Conclusions/significance:
This work provides insight into the evolution of ONB cancer cells and provides a window into the more complex factors, including tumor clonality and multiple driver mutations.
Acute Corneal Hydrops in Keratoconus Patients with Graves' Orbitopathy
Authors: Aysun Sanal Dogan, Canan Gurdal, Osman Celikay, Rabiatul Busra Akdan Bilen
Journal: Beyoglu Eye J (2021)
Keywords: corneal hydrops, graves’ orbitopathy, intraocular pressure, keratoconus, thyroid associated orbitopathy
MeSH terms: Case Reports

Presented are 2 cases of acute corneal hydrops in keratoconus with Graves' orbitopathy (GO). Two patients (Case 1: female, 54 years old; Case 2: male, 33 years old) with coexisting keratoconus and GO demonstrated typical findings of acute corneal hydrops (ACH) in 1 eye during the active stage of orbitopathy. There was no history of trauma. The ACH healed with scarring after management with a therapeutic contact lens and medical treatment in each patient within 3 months and 5 months, respectively. The development of ACH in keratoconus patients has previously been reported to be associated with male gender, ethnicity, age, eye rubbing, trauma, rapidly progressive disease, atopy, and vernal conjunctivitis. GO involves ocular surface inflammation and fluctuation of intraocular pressure. Active GO can be a risk factor for ACH in keratoconus patients.
Case report: Co-occurring autism spectrum disorder (Level One) and obsessive-compulsive disorder in a gender-diverse adolescent
Authors: Andrea D Guastello, Corey Lieneman, Brittany Bailey, Melissa Munson, Megan Barthle-Herrera, Miranda Higham, Lindsay Druskin, Cheryl B McNeil
Journal: Front Psychiatry (2023)
Keywords: autism spectrum disorder, case report, exposure and response prevention, gender identity, obsessive-compulsive disorder

This fictionalized case report captures the common themes and considerations during the diagnostic assessment and behavioral treatment of adolescents demonstrating symptoms of autism spectrum disorder (ASD), obsessive-compulsive disorder (OCD), and attention-deficit/hyperactivity disorder (ADHD), as well as gender-diversity concerns. Our patient was a white, non-Hispanic 17-year-old individual who identified as gender-neutral but had been assigned female at birth. Symptoms presented were social withdrawal, rigid rule-following behavior, unusual repetitive behavior, impairments in social communication skills, sensory sensitivity, body dissatisfaction, self-injury, and anxiety related to contamination, perfectionism, and social interactions. These symptoms contributed to functional impairment with school attendance, school achievement, family relationships, and the activities of daily living. This case report summarizes instruments employed for differential diagnosis concerning cognitive functioning, ASD, OCD, ADHD, depression, anxiety, and commonly co-occurring repetitive behavior. This patient was ultimately diagnosed with ASD, level one for both social communication and restricted, repetitive behaviors, without accompanying intellectual or language impairment; OCD with panic attacks; gender dysphoria; major depressive disorder (single episode and moderate); and ADHD. The subsequent 40-session course of cognitive-behavioral therapy with exposure and response prevention (CBT/ERP) to treat OCD tailored to an individual with ASD and gender diversity concerns is described in detail. Components of family involvement are highlighted. As a result, significant improvements in school attendance, OCD symptoms, depression, social relationships, and adaptive functioning were measured. Lastly, recommendations for clinicians are summarized.
Noncontiguous Multifocal Spondylodiscitis in 3 Regions of the Spine
Authors: Fernando González González, Arturo Aguirre Madrid, Dizán Mendoza Pedroza, Abelardo Loya Solis, Fernando Hernández Aragon, Nadia Karina Portillo Ortiz, Edmundo Berumen Nafarrate
Journal: Case Rep Orthop (2022)
MeSH terms: Case Reports

Spondylodiscitis is an uncommon infectious disease of the spine, usually presenting in 1 or 2 contiguous levels, associated with risk factors such as diabetes, intravenous drugs, corticosteroids, and invasive procedures. The most common presentation is pain with nonspecific systemic manifestations. Diagnosis relies on clinical suspicion, laboratories, and imaging studies. Urgent treatment is important due to the high morbid mortality associated with sepsis or a fulminant disease course. We report the case of a 39-year-old female diagnosed with noncontiguous multifocal spondylodiscitis, in the cervical, thoracic, and lumbar spine. The patient initially presented with back pain, inability to walk and severe neurological deficit in the upper and lower extremities, upon diagnosis broad-spectrum antibiotics were initiated. A staged surgical approach was performed in the 3 spine segments. During the 6 month follow-up, the patient presented walking with assistance, with the recovery of strength in the upper and lower extremities.
Primary Intracranial Melanoma with Early Leptomeningeal Spread: A Case Report and Treatment Options Available
Authors: Rajesh Balakrishnan, Rokeya Porag, Dewan Shamsul Asif, A M Rejaus Satter, Md Taufiq, Samson S K Gaddam
Journal: Case Rep Oncol Med (2015)

Primary CNS melanomas are rare and they constitute about 1% of all cases of melanomas and 0.07% of all brain tumors. These tumors are aggressive in nature and may metastasise to other organs. Till date less than 25 cases have been reported in the literature. The primary treatment for local intraparenchymal tumours is complete resection and/or radiotherapy and it is associated with good survival. However once there is disease spread to leptomeninges the overall median survival is around 10 weeks. In this case report we describe a primary intracranial melanoma without any dural attachment in 16-year-old boy who had radical excision of the tumor followed by radiotherapy who eventually had rapidly developed leptomeningeal disease and review the literature with a focus on the clinic pathological, radiological, and treatment options.
Severe Staphylococcus aureus infections in children: Case reports and management of positive Panton-Valentine leucocidin cases
Authors: Sophie Goemanne, Anne Tilmanne, Dominique Biarent, Pierre Smeesters, Paolo Simoni, Bhavna Ansuya Mahadeb, Alfredo Vicinanza
Journal: Front Pediatr (2022)
Keywords: panton-valentine leucocidin, staphylococcus aureus, children, methicillin-sensitive staphylococcus aureus, severe infections
MeSH terms: Case Reports

Background:

Staphylococcus aureus is a well-known bacterium associated with carriage and responsible for different types of infections. The Panton-Valentine leucocidin (PVL) is a key virulence factor causing tissue necrosis. PVL can, however, be present in both benign and life-threatening infections.
Case reports and management:
We present three pediatric severe infections occurring over a period of only three weeks, in February 2021, and caused by genetically unrelated methicillin-sensitive Staphylococcus aureus producing PVL in a tertiary children's hospital in Belgium. The first one presented with necrotizing pneumonia, the second one with a neck abscess extended to the mediastinum, and the last one had sacral osteomyelitis complicated by endocarditis. The management of these infections is mostly based on expert opinions. The most appropriate treatment seems to be the combination of early surgical drainage of infected collections with an antibiotic regimen associating two antibiotics; beta-lactams and either clindamycin or linezolid. Human immunoglobulins also appear to be useful as adjunctive therapy.
Conclusion:

PVL-producing Staphylococcus aureus is associated with life-threatening infections in children. Prompt management is needed including surgery and appropriate antibiotic regimens.
Case report: Malignant chemodectoma with hepatic metastasis in a cat
Authors: Shakirat Adeola Adetunji, Kaiwen Chen, Justin Thomason, Franco Matias Ferreyra
Journal: Front Vet Sci (2023)
Keywords: aortic body tumor, chemodectoma, feline, malignant, metastasis
MeSH terms: Case Reports

A 10-year-old, male-neutered, domestic short-hair cat was examined at the Veterinary Health Center Emergency Service at Kansas State University for a one-day history of dyspnea. Prior to thoracocentesis, sedation was provided. The cat stopped breathing after sedation and went into cardiac arrest. Cardiopulmonary resuscitation (CPR) was unsuccessful. At necropsy, there was severe pleural effusion and bilateral pulmonary atelectasis. The myocardium of the atria and ventricles, and tunica adventitia of coronary vessels, pulmonary artery, and aorta, had pale, firm, multinodular masses ranging from 0.3 to 0.5 cm in diameter. Multiple nodules were also present in the liver. Multifocally expanding the epicardial fat and compressing the underlying epicardium, infiltrating, and expanding the myocardium, and expanding the walls of major vessels, there was a multinodular, unencapsulated, densely cellular neoplasm composed of polygonal epithelial cells arranged in nests and packets and supported by a fine fibrovascular stroma. The nodules in the liver had similar histologic features. In this case, neoplastic cells at the primary and metastatic sites were intensely immunoreactive to synaptophysin, variably reactive to chromogranin A, and negative for neuron specific enolase, cytokeratin, vimentin, thyroglobulin, and smooth muscle actin. The gross, histologic, and immunohistochemical findings support the diagnosis of chemodectoma, with metastases to the liver. Synaptophysin and chromogranin A were the most useful immunohistochemical markers to diagnose malignant chemodectoma in this cat.
Symptomatic Medial Bone Excrescence in the Distal Phalanx of the Hallux after the First Metatarsophalangeal Joint Arthrodesis: A Case Report and Radiographic Reviews
Authors: Yuji Maenohara, Ryutaro Takeda, Song Ho Chang, Yasunori Omata, Sakae Tanaka, Takumi Matsumoto
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Medial bone excrescence at the base of the distal phalanx of the hallux is a common manifestation which is rarely painful. In this case report, we described the first case of the excrescence becoming symptomatic one year after a metatarsophalangeal (MTP) joint arthrodesis of the great toe in a 74-year-old female. The medial bony excrescence which was obscure preoperatively became obvious postoperatively in the anteroposterior foot radiographs. The patient was successfully treated by an excision of the excrescence. In order to clarify the pathology of the excrescence, we reviewed the radiographs with respect to the excrescence before and after hallux surgeries including 97 metatarsal osteotomies and 33 MTP joint arthrodesis. The width of the excrescence measured in the anteroposterior foot radiographs displayed substantial increment one month after the hallux surgeries (osteotomy group: 0.9 ± 0.7 vs. 1.5 ± 0.7 mm, p < 0.01; arthrodesis group: 1.3 ± 0.8 vs. 1.8 ± 1.0 mm, p < 0.01). However, there was no significant difference in the width of the excrescence between one month after surgery and at the most recent follow-up of around 20 months in average after the surgery (osteotomy group: 1.5 ± 0.7 vs. 1.4 ± 0.7 mm, p = 0.62; arthrodesis group: 1.8 ± 1.0 vs. 1.8 ± 0.7 mm, p = 0.37). The present case and our radiographic review suggested that the postoperative medial bony excrescence was not the result of change of position of the preexisting excrescence. The correction of pronation deformity through hallux surgeries could emphasize the medial bony excrescence and cause symptomatic irritation upon shoe contact.
Case Report: Testicular failure possibly associated with chronic use of methylphenidate
Authors: Ranjith Ramasamy, Pranav Dadhich, Ashna Dhingra, Larry Lipshultz
Journal: F1000Res (2014)

Methylphenidate is a commonly prescribed treatment for attention deficit hyperactivity disorder (ADHD). However, little is known about its adverse effects on the male reproductive system. We report a 20-year-old male patient whose chief complaint was of delayed puberty. He spoke in a high-pitched voice and complained of lack of body hair, impaired libido, inadequate erectile function, chronic fatigue, and low energy. He had been treated with methylphenidate as an infant and had continued treatment for 17 years. On examination, the patient was lean and visibly lacked facial or body hair. He further explained that he had never been able to grow underarm or facial hair and that he was often mistakenly considered a young teenager rather than a 20-year-old. The patient's genitalia were categorized as Tanner Stage 2. Laboratory studies confirmed low serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone levels. The patient was given exogenous testosterone supplementation with pellets and human chorionic gonadotropin to maintain testicular size. After 4 months his symptoms improved and he demonstrated signs of puberty. Our goal is to further elucidate the possible impact of methylphenidate on the male reproductive system.
Congenital hepatic fibrosis and need for liver transplantation
Authors: B Geramizadeh, P Keramati, A Bahador, H Salahi, S Nikeghbalian, S M Dehghani, S A Malek-Hosseini
Journal: Int J Organ Transplant Med (2010)
MeSH terms: Case Reports

Herein, we describe two patients who underwent liver transplantation with the clinical diagnosis of hepatic failure and cryptogenic cirrhosis; histopathology of the explanted hepatectomy specimen revealed congenital hepatic fibrosis. To the best of our knowledge, coexistence of hepatic failure and cirrhosis in congenital hepatic fibrosis, have not yet been reported in the English literature.
Caecal volvulus in an adolescent African male: a case report and brief review of the literature
Authors: Clifford Mwita, Johnstone Muthoka, Powell Kanina, Phillip Mulingwa
Journal: Pan Afr Med J (2014)
Keywords: acute abdomen, africa, caecal volvulus
MeSH terms: Abdominal Pain / etiology, Cecal Diseases / diagnosis, Intestinal Volvulus / diagnosis, Case Reports, Review, Adolescent, Cecal Diseases / surgery, Humans, Intestinal Volvulus / surgery, Kenya, Male

Caecal volvulus is an infrequent clinical condition caused by an axial twist of ascending colon, caecum and terminal ileum around the mesenteric pedicle. This article presents the case of a 16-year old African male from Kenya who presented to the emergency department with acute onset right sided lower abdominal pain diagnosed intra-operatively as caecal volvulus. The rare nature of the condition, the need for a high index of suspicion and surgical management are highlighted.
Vitamin K Deficiency Presenting in an Infant with an Anterior Mediastinal Mass: A Case Report and Review of the Literature
Authors: Mauricio A Palau, Amanda Winters, Xiayuan Liang, Rachelle Nuss, Susan Niermeyer, Megan Gossling, Clyde Wright
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

We report a case of a 1-month-old infant with spontaneous thymic hemorrhage secondary to severe vitamin K deficiency. He was brought to medical attention due to scrotal bruising and during evaluation was noted to be tachypneic and hypoxemic. Chest X-ray revealed an enlarged cardiothymic silhouette, and a follow-up echocardiogram revealed a mass in the anterior mediastinum. Routine laboratory work-up revealed severe coagulopathy. Further questioning revealed the patient had not received prophylactic vitamin K at birth. The coagulopathy resolved with administration of vitamin K, and a biopsy confirmed the anterior mediastinal mass was due to spontaneous thymic hemorrhage.
A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene
Authors: Tao-Ran Li, Qun Wang, Mao-Mao Liu, Rui-Juan Lv
Journal: Front Neurol (2019)
Keywords: leigh syndrome, leigh-like syndrome, melas, melas-ls overlap syndrome, m10191t>c mutation
MeSH terms: Case Reports

Leigh syndrome (LS) is a mitochondrial disease of infancy and early childhood, that is rarely seen in adults. The high degree of genetic and clinical heterogeneity makes LS a very complex syndrome. The clinical manifestations include neurological symptoms and various non-neurological symptoms, with different mutations differing in presentations and therapies. The m.10191T>C mutation in the mitochondrial DNA gene encoding in the respiratory chain complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction and causing a broad clinical spectrum of disorders that includes LS. Patients with the m.10191T>C mutation are rare in general, even more so in adults. In the present study, we report a family of patients with very rare adult-onset Leigh-like syndrome with the m.10191T>C mutation. The 24-year-old proband presented with seizures 6 years ago and developed refractory status epilepticus on admission. She had acute encephalopathy accompanied by lactic acidosis, symmetrical putamen and scattered cortical lesions. The video electroencephalogram suggested focal-onset seizures. She harbored the heteroplasmic m.10191T>C mutation in her blood and fibroblasts. Her aunt was diagnosed with mitochondrial disease at the age of 42, and had the heteroplasmic m.10191T>C mutation in her fibroblasts. Her aunt's son (cousin) died of respiratory failure at the age of 8, and we suspected he was also a case of LS. Furthermore, we reviewed the previously reported patients with the m.10191T>C mutation and summarized their characteristics. Recognizing the characteristics of these patients will help us improve the clinical understanding of LS or Leigh-like syndrome.
Case report: Right coronary artery rupture-A rare complication of cardiopulmonary resuscitation
Authors: Chenchen Ai, Xiaobo Lv, Xuehong Qi, Hanbo Tang
Journal: Front Cardiovasc Med (2022)
Keywords: cardiopulmonary resuscitation, cardiovascular injury, chest compression, coronary artery rupture, hemorrhagic shock
MeSH terms: Case Reports

An 8-month-old female experienced a life-threatening right coronary artery rupture resulting from cardiopulmonary resuscitation (CPR) 1 week after corrective surgery for Tetralogy of Fallot (TOF). Emergency exploratory thoracotomy was performed due to uncorrectable hemorrhagic shock. During exploration, active bleeding was detected in the anterior branch of the right ventricular coronary artery. After the repair, the patient's condition improved. Coronary artery rupture is an extremely rare complication of CPR. Here, we present a case that provides new reflections and warnings to clinicians.