OpenMed/multicare-articles huggingface dataset:
Congenital Rhabdomyosarcoma Presenting as a Neck Mass at Birth
Authors: Leah E Waldman, Alex K Williamson, John B Amodio, Lee Collins
Journal: Case Rep Pediatr (2018)
MeSH terms: Case Reports

Rhabdomyosarcoma is a malignant tumor of the soft tissues which preferentially affects the pediatric population. Neonatal rhabdomyosarcoma is rare, and much of the published literature concerning this entity consists of isolated case reports and small case series. Recent work involving the classification of rhabdomyosarcoma has helped to delineate prognostic information based on gene rearrangements. Here, we present a case of congenital rhabdomyosarcoma seen in utero which manifested as a neck mass at birth and was found to harbor a favorable gene fusion.
Laparoscopic Repair of Morgagni Hernia: Three-Case Presentation and the Literature
Authors: Gholamali Godazandeh, Farzad Mokhtari-Esbuie
Journal: Case Rep Surg (2016)

Introduction. Morgagni hernia is a rare form of congenital diaphragmatic hernia. Case Presentation. We present three cases of Morgagni hernia with GI symptoms treated by laparoscopic surgery. Discussion. Hernial sac was excised in two cases and left in situ in one case. There was no recurrence in symptoms after 30 months from surgery.
Synchronous Occurrence of Splenic Pleomorphic Mantle Cell Lymphoma and Esophageal Adenocarcinoma with Overexpression of BCL1 Protein
Authors: Dominik Dabrowski, Roberto F Silva, Michael Constantinescu, Rodney E Shackelford, Nestor Dela Cruz, Eric X Wei
Journal: Case Rep Oncol Med (2020)
MeSH terms: Case Reports

Synchronous occurrences of mantle cell lymphoma (MCL), or intermediate lymphocytic lymphoma, and other malignancies are rare. Such cases present diagnostic and especially therapeutic challenges, making them of particular interest to study. We report a case of synchronic MCL and an esophageal tumor in an elderly male patient. Morphologically, the tumors were classified as splenic pleomorphic MCL and adenocarcinoma of the esophagus occurring concurrently. The pleomorphic MCL mimicked diffuse large B cell lymphoma (DLBCL) but lacked larger centroblast- or immunoblast-like cells. Curiously, both tumors overexpressed cyclin D1 by immunohistochemistry. This is an important feature that distinguishes MCL pathologically from two of its closest entities in the differential diagnosis: chronic lymphocytic leukemia and DLBCL, the latter of which mantle cells cannot transform into. The lymphoproliferation revealed IGH/CCND1 translocation by FISH, but the esophageal adenocarcinoma only showed CCND1 aneuploidy without break-apart signals. Since the gastrointestinal (GI) tract is a common site of extranodal involvement by MCL and lymphomatous polyposis can present as GI polyps, adequate care was taken to differentiate the esophageal adenocarcinoma from advanced stagings of MCL, as well as metastatic adenocarcinoma. Despite numerous immunohistochemical stainings studied, only BCL1 was demonstrated to have partial overlap in both tumors. The patient underwent esophagectomy and splenectomy. A subsequent metastatic primary lung squamous cell carcinoma was diagnosed, after which the patient expired. MCL typically presents at an advanced stage and has been deemed incurable with a prognosis of only several years. It is unclear whether the patient succumbed to complications of his MCL or the metastatic squamous cell carcinoma. Furthermore, he was lost to follow-up for a year and only received treatment after his third cancer was diagnosed. We have reviewed previous reports of synchronic mantle cell lymphoma and other solid tumors or hematological malignancies in the literature.
A Case of Myeloid Sarcoma following Allogeneic HSCT Presenting as Localized Hip Pain
Authors: Shannon Zhang, Casey Charlton, Akshay Amaraneni, Keri Maher
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Myeloid sarcoma is a rare variant of acute myeloid leukemia (AML) which presents as an extramedullary soft tissue mass. Due to the rarity of this disease, along with nonspecific presenting symptoms, diagnosis can be delayed or missed without a high index of suspicion. In this case, we discuss a patient diagnosed with AML relapse in the form of myeloid sarcoma two years after allogeneic hematopoietic stem cell transplant (alloHSCT) for myelodysplastic syndrome (MDS) with the initial presentation for back pain misdiagnosed as spinal stenosis. This case report aims to help healthcare providers in recognizing the early signs and symptoms of this disorder as well as provide information in regards to treatment options and risk assessment.
Undifferentiated liver sarcoma -- rare entity: a case report and review of the literature
Authors: Kashif Iqbal, Zhang Meng Xian, Chen Yuan
Journal: J Med Case Rep (2008)

Introduction:
Undifferentiated Liver Sarcoma, also known as Undifferentiated Embryonal Sarcoma of the Liver, is a rare, highly malignant neoplasm which affects mostly the pediatric population, although a few cases have been reported in adults. It accounts for about 13% of pediatric hepatic malignancies.
Case presentation:
We report a case of undifferentiated liver sarcoma in a 14-year-old Chinese boy who presented with non-specific right hypochondriac pain. Exploratory laparotomy with tumor resection was performed, followed by adjuvant chemotherapy.
Conclusion:
Undifferentiated Liver Sarcoma is a rare, highly malignant hepatic neoplasm affecting almost exclusively the pediatric population. The prognosis is poor but recent evidence shows that long-term survival is possible after complete surgical resection and postoperative chemotherapy.
A Case Report and Review of the Literature of Adult Gastric Duplication Cyst
Authors: Scott Samona, Richard Berri
Journal: Case Rep Surg (2015)

Gastrointestinal (GI) duplication cysts are a rare congenital disease. They may involve any level of the alimentary tract, but they most commonly involve the ileum, esophagus, and jejunum. Gastric duplication cysts represent approximately 4-8% of GI duplication cysts, the majority of which present in early childhood. We present a rare case of adult gastric duplication cyst in a 25-year-old female found to have abdominal mass on computed tomography imaging. There are several potential methods to diagnose gastric duplication cyst and treatment of choice is complete surgical resection.
Diarrhea as a Presenting Symptom of Disseminated Toxoplasmosis
Authors: Matthew Glover, Zhouwen Tang, Robert Sealock, Shilpa Jain
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

Disseminated toxoplasmosis is uncommon in both immunocompetent and immunocompromised hosts with gastrointestinal involvement being rarely described. We report a case of disseminated gastrointestinal toxoplasmosis in an immunocompromised man who presented with one month of diarrhea and abdominal pain. Imaging showed thickening of the ascending colon and cecum. Esophagogastroduodenoscopy and colonoscopy biopsies revealed Toxoplasma gondii, confirmed by immunostain. Symptoms completely resolved following treatment with pyrimethamine, sulfadiazine, and leucovorin. This case highlights the importance of including toxoplasmosis in the differential diagnosis of any immunocompromised individual presenting with gastrointestinal symptoms.
Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case Studies
Authors: David Foxe, Elle Elan, James R Burrell, Felicity V C Leslie, Emma Devenney, John B Kwok, Glenda M Halliday, John R Hodges, Olivier Piguet
Journal: Front Psychol (2018)
Keywords: c9orf72, clinical case study, frontotemporal dementia, genetics, motor neuron disease, slowly progressive dementia

The C9orf72 genetic mutation is the most common cause of familial frontotemporal dementia (FTD) and motor neuron disease (MND). Previous family studies suggest that while some common clinical features may distinguish gene carriers from sporadic patients, the clinical features, age of onset and disease progression vary considerably in affected patients. Whilst disease presentations may vary across families, age at disease onset appears to be relatively uniform within each family. Here, we report two individuals with a C9orf72 repeat expansion from two generations of the same family with markedly different age at disease onset, clinical presentation and disease progression: one who developed motor neuron and behavioural symptoms in their mid 40s and died 3 years later with confirmed TDP-43 pathology and MND; and a second who developed cognitive and mild behavioural symptoms in their mid 70s and 8 years later remains alive with only slow deterioration. This report highlights the phenotypic variability, including age of onset, within a family with the C9orf72 repeat expansion.
Tuberculous Pachymeningitis Presenting as a Diffused Dural Thickening in a Patient with Chronic Headache and Recurrent Neurological Abnormalities for More than a Decade: A Case Report and a Review of the Literature
Authors: C L Fonseka, T E Kanakkahewa, S D A L Singhapura, J S Hewavithana, L P Kolambage, H M M Herath, K D Pathirana, Thilak Priyantha Weeraratna
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Background:
Tuberculous pachymeningitis is a rare form of extrapulmonary tuberculosis usually suspected from the detection of thickening of the dura in contrast-enhanced magnetic resonance imaging. Progressive nature of the disease can lead to chronic headache with focal neurological signs due to compression from the thickened dura.
Case report:
We report a 40-year-old female who presented with chronic headache over a decade associated with recurrent neurological abnormalities including optic neuritis, hemisensory loss, migraine, facial nerve palsy, and recurrent vertigo. Although there was an initial perceived response to steroids, the patient had a subsequent progressive course. On investigations, she was found to have a diffused dural thickening on contrast MRI with a strongly positive Mantoux test with caseating necrotizing granulomatous inflammation on dural histology. With initiation of antituberculous medication with steroids, the patient markedly improved, and the medication for tuberculosis was continued for a year with good response.
Conclusion:
Primary tuberculous pachymeningitis should be suspected in a patient complaining of prolonged headache with focal neurological signs when MRI evidence of dural thickening is detected, and another focus of tuberculosis was not found. Prompt suspicion with image-guided dural biopsy for histology would help to confirm the diagnosis.
May ingestion of leachate from decomposed corpses cause appendicitis? A case report
Authors: Maurício Domingues-Ferreira, Pedro Saddi-Rosa, André Luis Dos Santos
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

The general consensus is that appendicitis is basically provoked by fecaliths or lymphoid hyperplasic obstruction. Several studies based on histological diagnosis have not confirmed this hypothesis. On the contrary, obstruction has been proved in only a minority of cases. Diverse infections by parasites, bacteria, fungus, and noninfective agents have been associated with appendicitis in the medical literature. We describe a firefighter, who ingested a small quantity of leachate from decomposing corpses while working and developed enteritis a few hours later, which lasted several days and evolved to appendicitis. This case raises the possibility that the high quantity of bacteria concentration present in the leachate could have provoked enteritis and the subsequent appendicitis due to a direct effect of the bacteria on the appendix.
Thoracic Outlet Syndrome after Minimally Invasive Repair of Pectus Excavatum in a 15-Year-Old Boy: A Case Report
Authors: Sara Fernandes, Carolina Soares-Aquino, Joana Monteiro, Norberto Estevinho, Mariana Borges-Dias
Journal: European J Pediatr Surg Rep (2022)
Keywords: nuss procedure, pectus excavatum, thoracic outlet
MeSH terms: Case Reports

Nuss procedure has become the treatment of choice in pectus excavatum mainly because of the excellent functional and cosmetic results. Despite the good results, several complications have been reported. The aim of this study is to describe a case of thoracic outlet syndrome (TOS) after Nuss procedure and review the management of such rare complication. A 15-year-old boy otherwise healthy was submitted to Nuss procedure, with no perioperative complications. Two-weeks later, the patient complained of right-hand paresthesia, progressive weakness of the right arm and coldness. After imaging and electromyography, TOS diagnosis was established. Removal of the bar was proposed but refused by the patient. Conservative management with rehabilitation exercising and nerve nourishing was initiated. At 7 months, the patient recovered arm and hand function. Abrupt structural changes of thoracic cavity with marked elevation of the upper chest induce nerve and vascular compression arousing a TOS and should be acknowledged as one potential complication of Nuss procedure. Conservative management can be an alternative treatment to bar removal, showing good results on functional recovery in early stages of compression.
Cricoarytenoid joint arthritis: a possible complication of dermatomyositis
Authors: Chadi Farah, Ouidade Aitisha Tabesh, Jad Okais, Arlette Hajjar, Amine Haddad
Journal: Pan Afr Med J (2020)
Keywords: cricoarytenoid joint arthritis, dermatomyositis, larynx, steroid therapy
MeSH terms: Arthritis / etiology, Arytenoid Cartilage / pathology, Cricoid Cartilage / pathology, Dermatomyositis / complications, Case Reports, Adult, Arthritis / drug therapy, Arthritis / pathology, Dermatomyositis / drug therapy, Female, Glucocorticoids / administration & dosage, Humans, Laryngoscopy, Prednisone / administration & dosage, Glucocorticoids, Prednisone

Cricoarytenoid joint arthritis is most frequently reported in Rheumatoid Arthritis and in other systemic diseases such as Sjogren's syndrome, Systemic Lupus Erythematosus, Ankylosing Arthritis, Juvenile Chronic Arthritis, and autoimmune hepatitis but it has not been reported in dermatomyositis. In this paper, we report the case of a 43 years-old woman treated for dermatomyositis who presented with hoarseness and severe odynophagia. The laryngoscopy revealed the presence of an extensive white swelling of the left cricoarytenoid joint with reduced mobility of the left vocal cord, consistent with left cricoarytenoid joint arthritis, which has not previously been described in dermatomyositis to our knowledge. Treatment with high doses of prednisone produced a complete resolution of the laryngeal symptoms.
Interstitial Lung Disease in Werner Syndrome: A Case Report of a 55-Year-Old Male Patient
Authors: Tiphaine Goletto, Flora Crockett, Selim Aractingi, Cecile Toper, Patricia Senet, Jacques Cadranel, Jean-Marc Naccache
Journal: Case Rep Pulmonol (2015)

Werner syndrome (WS) is a progeroid or premature aging syndrome characterized by early onset of age-related pathologies and cancer. The average life expectancy of affected people is 52.8 years and tends to increase. The major causes of death are malignancy and myocardial infarction. Increased telomere attrition and decay are thought to play a causative role in the clinical and pathological manifestations of the disease. Although telomere length, with or without germline mutation, is known to be associated with interstitial lung disease, the latter is not associated with WS. To the best of our knowledge, we report the first case describing a WS patient with fatal ILD. This case suggests that older patients with WS could develop ILD. Clinical outcome of WS patients may thus be improved by counselling them regarding smoking cessation or other exposure and by proposing antifibrotic therapy.
Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a propable mild form of desbeqious dysplasia: a case report and review of the literature
Authors: Ali Al Kaissi, Christof Radler, Klaus Klaushofer, Franz Grill
Journal: Cases J (2009)

Introduction:
[corrected] Advanced bone maturation is a radiographic feature that might be encountered in a number of different forms of skeletal dysplasias such as Desbuquois dyspalsia, Larsen syndrome, the Reunion Island form of Larsen syndrome, diastrophic dysplasia, acrodysostosis, Catel-Manzke syndrome, a variant of metatropic dysplasia and Maroteaux-lamy syndrome.
Case presentation:
We report on a 2-year- old boy from Slovakia was born to non-consanguineous parents. Prenatal and postnatal growth parameters were normal. Clubfoot and genu valgum were the most prominent orthopaedic abnormalities. Radiographic documentation showed bone age of 4 years and 8 months associated with the appearance of accessory ossification centers. Monkey wrench appearance of the proximal femora was a characteristic finding associated with significant vertebral changes.
Conclusion:
The major skeletal changes in our patient include advanced carpal ossification, monkey wrench appearance of the proximal femora associated with significant vertebral changes. No joint dislocations, no hitchhiker thumbs and or dysmorphic facial features were present. The normality of his growth, facial features, intelligence, and palate as well as the characteristic radiographic features were to certain extent in favour of a mild form of Desbuquois dysplasia. Additional laboratory findings allowed us to exclude other disorders with abnormal metabolic parameters such as mucopolysaccharoidosis.
A patient with an unusual cause right lower quadrant pain and vomiting: pyelonephritis of an ectopic right kidney masquerading as acute appendicitis
Authors: Michele N Lossius, Carlos E Araya, Dwayne D Henry, Richard E Neiberger
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

An adolescent female presented with one day of abdominal pain and clinical findings of acute appendicitis. CT scan revealed an ectopic right kidney with changes of acute pyelonephritis. This paper underscores the importance of imaging the right pelvis prior to surgical intervention in suspected cases of acute appendicitis in children.
Dermatitis herpetiformis in an African woman
Authors: Musonda Sharon Machona, Mehak Gupta, Victor Mudenda, Owen Ngalamika
Journal: Pan Afr Med J (2018)
Keywords: dermatitis herpetiformis, autoimmune, dietary gluten
MeSH terms: Black People, Dermatitis Herpetiformis / diagnosis, Glutens / adverse effects, Case Reports, Adult, Dermatitis Herpetiformis / physiopathology, Female, Humans, Glutens

Dermatitis herpetiformis (DH) is an autoimmune blistering disease of the skin. It is a result of hypersensitivity to dietary gluten. Diagnosis of DH can be challenging in a low prevalence, resource-limited population. We present the case of an African woman who presented with clinical features of DH.
The Challenging Diagnosis of Primordial Odontogenic Tumor
Authors: Lucas Novaes Teixeira, Cristiane Furuse, Fabrício Passador Santos, Andresa Borges Soares, Eder Magno Ferreira de Oliveira, Ney Soares de Araújo, Vera Cavalcanti de Araújo
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Primordial odontogenic tumor (POT) is a benign mixed odontogenic tumor comprised of a loose connective tissue with a similar morphology with dental papilla and exhibiting in its periphery the presence of a columnar epithelium. POT occurs in young patients and typically is associated with an unerupted tooth, with the mandible being the main anatomic site of occurrence. The present manuscript is aimed at describing a new case of POT and reviewing the main biologic findings related to this odontogenic tumor.
Unexplained worsening of parkinsonian symptoms in a patient with advanced Parkinson's disease as the sole initial presentation of COVID-19 infection: a case report
Authors: Walaa A Kamel, Ismail Ibrahim Ismail, Mohamed Ibrahim, Jasem Y Al-Hashel
Journal: Egypt J Neurol Psychiatr Neurosurg (2021)
Keywords: covid-19, parkinsonism, parkinson’s disease, sars-cov-2
MeSH terms: Case Reports

Background:
Parkinson's disease (PD) is a neurodegenerative condition that has been reported following viral infections in rare occasions. Several neurological complications have emerged in association with coronavirus disease 2019 (COVID-19), since its declaration as a pandemic. Herein, we present a novel case of unexplained worsening of PD as the sole initial presentation of COVID-19, in the absence of fever or respiratory symptoms.
Case presentation:
A 56-year-old male with advanced PD presented with severe rigidity, dystonic posturing of both feet, and confusion of 4 days duration. His condition progressed to an akinetic-rigid state and confusion during the following week, and a routine nasopharyngeal swab tested positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on the 9th day of onset. He developed fever and dyspnea later and was intubated on the 10th day.
Conclusion:
To our knowledge, worsening of PD symptoms as the sole initial manifestation of SARS-CoV-2 infection, in the absence of other cardinal features of COVID-19, has not been reported in the literature. We suggest testing for COVID-19 infection in patients with PD, especially advanced cases, who present with unexplained worsening of symptoms, even in the absence of COVID-19 cardinal features.
Tele-Rehabilitation for Postural Control by Means of Virtual Reality Rehabilitation System in an Adolescent With Motor Disorder: A Case Study
Authors: Valentina Menici, Veronica Barzacchi, Silvia Filogna, Elena Beani, Francesca Tinelli, Giovanni Cioni, Giuseppina Sgandurra
Journal: Front Psychol (2021)
Keywords: covid-19, virtual reality rehabilitation system, balance, medical device, motor disorder, postural control, tele-rehabilitation
MeSH terms: Case Reports

The coming of an unforeseen and hostile event such as the COVID-19 pandemic has brought about various changes in everyone's daily life. During the lockdown period, a huge number of restrictions were imposed, hence interrupting a wide range of activities previously proven to be necessary for some people. Due to the circumstances, rehabilitation treatments for children with neurodevelopmental disorders have been suspended, resulting in consequent distress for the children themselves and their parents. To overcome this problem, a tele-rehabilitation approach has proven to be an excellent solution to give continuity to children's rehabilitation. The tele-rehabilitation approach allows access to rehabilitation services directly from home. During lockdown due to the COVID-19 pandemic, the Virtual Reality Rehabilitation System (VRRS) HomeKit, developed by Khymeia, was employed as a rehabilitation system for the treatment of posture and balance of an adolescent with disabilities for the first time ever. Specifically, a 17-year-old female patient was enrolled and evaluated by the clinical staff before and after the home-training sessions. The system was delivered to the patient's home so that she could perform the tasks in a familiar environment, while under the supervision of the clinical staff. Through a specific platform, using different modules of the system, therapists could remotely check that the proposed exercises were properly performed and provide feedback and/or increase the difficulty according to the patient's needs and progress. Therefore, the treatment performed was carried out at home in a personalized, intensive, and playful way; characteristics do not present in a traditional treatment. Our results are promising and demonstrate both the efficacy of rehabilitation exercises carried out at home and the feasibility of home-based rehabilitation, when using the VRRS HomeKit even with adolescents. The VRRS HomeKit presents some limitations, such as the need to have the line connection and free space at home, the presence of technical issues, and the education of parents and patients to understand the instructions. Despite the limitations, this study provides the basis for continuing the experience of tele-rehabilitation on patients with a motor disorder also by customizing the exercises to their characteristics.