OpenMed/multicare-articles huggingface dataset:
Fecal Scrotal Abscess Secondary to Spontaneous Retroperitoneal Perforation of Ascending Colon
Authors: Akshay Bahadur, Nirmala Singh, Mayank Kashmira, Ashish Shukla, Vikas Gupta, Shashank Jain
Journal: Case Rep Med (2021)
MeSH terms: Case Reports

Introduction:
Fecal abscess or enterocutaneous fistulas of the scrotum are rare and are invariably the result of incarcerated bowel loop in inguinal hernia. Spontaneous perforation of the colon (SPC) having no definite cause is also rare. Much rarer is posterior colonic perforations causing an extensively large retroperitoneal abscess. Similarly, spread of retroperitoneal abscess to the thigh or scrotum has rarely been reported. We report a case of spontaneous posterior perforation of ascending colon resulting in large retroperitoneal abscess eventually causing scrotal abscess, which resolved on conservative treatment and drainage of the scrotal fecal abscess. Case Presentation. A 20-year-old male presented with gradually increasing noncolicky pain right side abdomen with nonprojectile vomiting, obstipation, and progressive abdominal distension. Clinically, the abdomen was tender with guarding over the right side with signs of inflammation on the right side back with no associated hernia. On conservative treatment, he was gradually improved but developed right side scrotal abscess a week later. CT abdomen showed a large retroperitoneal collection having multiple internal air lucencies, displacing ascending colon and caecum medically with discontinuity in the posterior wall of ascending colon. The large retroperitoneal collection was extending from right pararenal and posterior perihepatic soft tissue planes to the right iliac fossa and thigh. On drainage of the scrotal abscess, about 350 ml of fecal contents was evacuated. The patient gradually recovered and was discharged on conservative treatment with an uneventful 4-year follow-up.
Conclusion:
Diagnosis of retroperitoneal perforation of the colon is often delayed due to the absence of peritoneal irritation. An extensively large retroperitoneal abscess may spread the infection to the scrotum and thigh due to extreme pressure, possibly by dissecting away the transversalis fascia through a deep ring along the side of the spermatic cord. Timely performed CT/MRI can avoid delay in the diagnosis of retroperitoneal abscess and further spread of infection.
Gelatinous Marrow Transformation Associated with Imatinib: Case Report and Literature Review
Authors: E Chang, G Rivero, B Jiang, S Yellapragada, P Thiagarajan
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

Gelatinous marrow transformation (GMT) is a rare condition observed in severe illness or malnutrition, in which the bone marrow contains amorphous "gelatinous" extracellular material, and histopathology demonstrates varied degrees of fat cell atrophy and loss of hematopoietic elements. An association of GMT with imatinib use in chronic myeloid leukemia (CML) has been reported recently. The objective of this study is to describe a case of GMT associated with imatinib use and review the existing similar cases in the literature to identify epidemiological patterns and potential imatinib-induced mechanisms leading to gelatinous conversion.
Spontaneous Pneumothorax With Subcutaneous Emphysema: A Rare Complication of Respiratory Syncytial Virus Infection
Authors: Carmen Silva, Ana Filipe Almeida, Catarina Ferraz, Teresa Nunes, Luisa Guedes Vaz
Journal: J Clin Med Res (2016)
Keywords: bronchiolitis, respiratory syncytial virus infection, spontaneous pneumothorax
MeSH terms: Case Reports

Viral bronchiolitis is the most common lower respiratory tract infection in infants and children under the age of 2. Respiratory syncytial virus (RSV) is the infecting agent in more than 50% of the cases. Usually the clinical course is uneventful and complications are uncommon. Secondary air leaks are a recognized rare complication of bronchiolitis, although the real incidence remains unknown. We report a case of a 21-month-old female that developed a spontaneous pneumothorax (PNO) with subcutaneous emphysema (SE) late in the course of RSV acute bronchiolitis. Additional investigation ruled out any underlying disease predisposing to spontaneous PNO. Physicians, especially those who work with small children, must be aware of this uncommon complication of bronchiolitis that may appear late in the course of the disease despite an initial clinical improvement.
HLA DRB1*03 as a possible common etiology of schizophrenia, Graves' disease, and type 2 diabetes
Authors: Aicha Sayeh, Cheker Ben Cheikh, Ali Mardessi, Meriem Mrad, Brahim Nsiri, Abdelaziz Oumaya, Najiba Fekih-Mrissa
Journal: Ann Gen Psychiatry (2017)
Keywords: autoimmunity, graves’ disease, hla, schizophrenia, type 2 diabetes
MeSH terms: Case Reports

Background:
Autoimmune diseases and schizophrenia share many common features. Association studies confirm a shared genetic association in the human leukocyte antigen (HLA) region between schizophrenia and most autoimmune diseases. To our knowledge, the simultaneous syndromes of Graves' disease (GD) and type 2 diabetes (T2D) in schizophrenia are rare in Tunisia.
Case presentation:
We report a case of a 42-year-old woman admitted to the department of psychiatry for an acute relapse of chronic schizophrenia. Her medical history revealed that she was followed for Graves' disease and for a type 2 diabetes mellitus. A low-resolution HLA typing was performed by polymerase chain reaction sequence-specific primer (PCR-SSP) techniques according to determine the patient's haplotype.
Conclusions:
Our study suggests that the HLA DRB1*03 allele may explain a common etiology underlying the co-morbidity of Graves' disease, type 2 diabetes, and schizophrenia in our patient.
The unmasking of Pneumocystis jiroveci pneumonia during reversal of immunosuppression: case reports and literature review
Authors: Alan K L Wu, Vincent C C Cheng, Bone S F Tang, Ivan F N Hung, Rodney A Lee, David S Hui, Kwok Y Yuen
Journal: BMC Infect Dis (2004)
MeSH terms: Immunosuppression Therapy / adverse effects, Pneumocystis carinii / isolation & purification, Pneumonia, Pneumocystis / diagnosis, Case Reports, Review, Adult, Antifungal Agents / therapeutic use, CD4 Lymphocyte Count, Female, HIV Infections, Humans, Immunocompromised Host, Immunosuppressive Agents / adverse effects, Male, Middle Aged, Opportunistic Infections, Pneumonia, Pneumocystis / drug therapy, Antifungal Agents, Immunosuppressive Agents

Background:
Pneumocystis jiroveci pneumonia (PCP) is an important opportunistic infection among immunosuppressed patients, especially in those infected with human immunodeficiency virus (HIV). The clinical presentation of PCP in immunosuppressed patients have been well-reported in the literature. However, the clinical importance of PCP manifesting in the setting of an immunorestitution disease (IRD), defined as an acute symptomatic or paradoxical deterioration of a (presumably) preexisting infection, which is temporally related to the recovery of the immune system and is due to immunopathological damage associated with the reversal of immunosuppressive processes, has received relatively little attention until recently.
Case presentation:
We aim to better define this unique clinical syndrome by reporting two cases of PCP manifesting acutely with respiratory failure during reversal of immunosuppression in non-HIV infected patients, and reviewed the relevant literature. We searched our databases for PCP cases manifesting in the context of IRD according to our predefined case definition, and reviewed the case notes retrospectively. A comprehensive search was performed using the Medline database of the National Library of Medicine for similar cases reported previously in the English literature in October 2003. A total of 28 non-HIV (excluding our present case) and 13 HIV-positive patients with PCP manifesting as immunorestitution disease (IRD) have been reported previously in the literature. During immunorestitution, a consistent rise in the median CD4 lymphocyte count (28/microL to 125/microL), with a concomitant fall in the median HIV viral load (5.5 log10 copies/ml to 3.1 log10 copies/ml) was observed in HIV-positive patients who developed PCP. A similar upsurge in peripheral lymphocyte count was observed in our patients preceding the development of PCP, as well as in other non-HIV immunosuppressed patients reported in the literature.
Conclusions:
PCP manifesting as IRD may be more common than is generally appreciated. Serial monitoring of total lymphocyte or CD4 count could serve as a useful adjunct to facilitate the early diagnosis and pre-emptive treatment of this condition in a wide range of immunosuppressed hosts, especially in the presence of new pulmonary symptoms and/or radiographic abnormalities compatible with the diagnosis.
A patient with fibroepithelial polyp of the ureter-a rare condition mimicking malignancy: a case report
Authors: Wolfgang Brummeisl, Hans-Martin Fritsche, Elisabeth Huber, Wolf F Wieland, Roman Ganzer
Journal: Case Rep Urol (2012)

A 61-year-old man presented with hematuria and intermittent right pelvic pain. Intravenous urography showed a tubular filling defect and ureteroscopy a tumor in the right mid ureter. Urine cytology and tumor biopsy showed nonmalignant results. Open surgery was performed, and an intraoperative frozen section revealed a fibroepithelial polyp of the right mid ureter. A fibroepithelial polyp is a rare benign lesion that can occur in childhood but is an important differential diagnosis of an upper urinary tract urothelial cell carcinoma in adults.
Orbital Inflammatory Complications of Crohn's Disease: A Rare Case Series
Authors: Tanya M Monaghan, Giorgio Albanese, Philip Kaye, James D Thomas, Lorraine C Abercrombie, Gordon W Moran
Journal: Clin Med Insights Gastroenterol (2018)
Keywords: orbital inflammation, inflammatory bowel disease
MeSH terms: Case Reports

Orbital inflammatory disease is a rare ophthalmic manifestation of Crohn's disease. Inflammation is characteristically nonspecific, involving one or multiple structures of the orbit. Mechanisms of disease and optimal methods of treatment are poorly understood. The aim of this report is to present 3 cases of orbital involvement in Crohn's disease. A retrospective case note review of patients with orbital inflammatory disease and Crohn's disease was performed at our academic center to determine the clinical, imaging, and histopathologic features of this condition and its relationship to intestinal Crohn's disease. Three patients were identified with orbital inflammatory manifestations complicating Crohn's disease. All patients described were women with active intestinal disease and had a history of treatment with immunosuppressive therapies. Similarities were observed in clinical presentations with variance noted in radiologic and histopathologic findings. In all cases, symptoms improved with oral corticosteroids or nonsteroidal drugs in combination with anti-tumor necrosis factor agents. Inflammatory bowel disease-related orbital complications are rare but potentially vision-threatening. It is important to consider mimics of orbital inflammatory disease such as systemic inflammatory disease, malignancy, congenital malformations, infection, and trauma when formulating a comprehensive differential diagnosis. Therapeutic intervention is directed toward preservation of vision and orbital function and reducing the acute inflammatory process. Corticosteroids are typically the initial treatment of choice for moderate-to-severe disease, although several classes of immunomodulatory agents have been variably useful in treating this condition. Heightened awareness and close cooperation between gastroenterologists and ophthalmologists are mandatory.
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype
Authors: Elena Sticchi, Rosina De Cario, Alberto Magi, Sabrina Giglio, Aldesia Provenzano, Stefano Nistri, Guglielmina Pepe, Betti Giusti
Journal: Biomed Res Int (2018)
MeSH terms: Aortic Valve / abnormalities, Genetic Variation, Heart Valve Diseases / genetics, Phenotype, Case Reports, Bicuspid Aortic Valve Disease, Dilatation, Pathologic, Fibrillin-1 / genetics, High-Throughput Nucleotide Sequencing, Humans, Italy, Male, Middle Aged, Receptor, Notch1 / genetics, FBN1 protein, human, Fibrillin-1, NOTCH1 protein, human, Receptor, Notch1

Background. Bicuspid aortic valve (BAV) is a common congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant pattern of inheritance with reduced penetrance and variable expressivity. BAV has been described as an isolated trait or associated with other clinical manifestations in syndromic conditions. Identification of a syndromic condition in a BAV patient is clinically relevant in order to personalize indication to aortic surgery. We aimed to point out how genetic diagnosis by next-generation sequencing (NGS) can improve management of a patient with complex BAV clinical picture. Methods and Results. We describe a 45-year-old Caucasian male with BAV, thoracic aortic root and ascending aorta dilatation, and connective features evocative but inconclusive for clinical diagnosis of Marfan syndrome (MFS). Targeted (91 genes) NGS was used. Proband genetic variants were investigated in first-degree relatives. Proband carried 5 rare variants in 4 genes: FBN1(p.Asn542Ser and p.Lys2460Arg), NOTCH1(p.Val1739Met), LTBP1(p.Arg1330Gln), and TGFBR3(p.Arg423Trp). The two FBN1 variants were inherited in cis by the mother, showing systemic features evocative of MFS, but with a milder phenotype than that observed in the proband. Careful clinical observation along with the presence of the FBN1 variants allowed diagnosis of MFS in the proband and in his mother. NOTCH1 variant was found in mother and brother, not exhibiting BAV, thus not definitely supporting/excluding association with BAV. Interestingly, the proband, his brother and father, all showing root dilatation, and his sister, with upper range aortic root dimension, were carriers of a TGFBR3 variant. LTBP1 might also modulate the vascular phenotype. Conclusions. Our results underline the usefulness of NGS together with family evaluation in diagnosis of patients with monogenic traits and overlapping clinical manifestations due to contribution of the same genes and/or presence of comorbidities determined by different genes.
Endometrial carcinosarcoma: a poor prognosis debut with favourable therapeutic outcome
Authors: María Fernanda Toro-Wills, Angelina Álvarez-Londoño, Abraham Hernández-Blanquisett, Fernando Salas Marquez, María Cristina Martínez-Ávila
Journal: Ecancermedicalscience (2022)
Keywords: carcinosarcoma, chemotherapy, endometrial cancer, overall survival, radiotherapy, therapeutic approach
MeSH terms: Case Reports

Endometrial carcinosarcoma (ECS) is a rare, highly aggressive disease characterised by a biphasic growth of malignant epithelial (carcinomatous) and mesenchymal (sarcomatous) components. Clinically, it cannot be distinguished from endometrial carcinoma or uterine sarcoma. The definitive diagnosis can only be made based on histological examination and immunohistochemistry. To date, there aren't standardised treatment protocols for its management. We report a case of a 73-year-old patient who presented postmenopausal abnormal uterine bleeding and was diagnosed with ECS. A non-conventional treatment approach was conducted with favourable oncological outcomes.
Catatonia and Mutism: Neurotic, Psychotic, or Organic Disorder?
Authors: Pilar de Jaime Ruiz, Jose Luis García-Fogeda Romero, Luis Gutiérrez-Rojas
Journal: Case Rep Psychiatry (2021)
MeSH terms: Case Reports

Background. Catatonia is caused by a variety of psychiatric and organic conditions. The onset, clinical profile, and response to treatment may vary depending on the underlying cause. Catatonia is more likely to be associated with neurotic and psychotic disorders, but some psychiatric symptoms are key components in the clinical presentation of other medical conditions. Case Report. We report the case of a woman who started showing paroxysmal recurrent episodes since the age of 57 years, characterized by surrounding disconnection, disorientation, and muscle spasm (myoclonus), followed by a postictal state. In the following months, the symptoms evolved to akinetic mutism, catatonia, and rapidly progressive vision and audition loss. She underwent a battery of tests, most of them inconclusive, until a neoplastic meningoencephalitis was diagnosed after more than two years of symptoms. Numerous medical conditions can mimic psychiatric disorders. This uncommon presentation may lead to a late diagnosis and treatment initiation, increasing significantly morbidity and mortality. A differential diagnosis with infectious, autoimmune, and neoplastic etiologies should always be carried out.
Exceptional cause of bowel obstruction: rectal endometriosis mimicking carcinoma of rectum--a case report
Authors: Selim Sassi, Mahdi Bouassida, Hassen Touinsi, Mohamed Mongi Mighri, Sonia Baccari, Fathi Chebbi, Khaled Bouzeidi, Sadok Sassi
Journal: Pan Afr Med J (2011)
Keywords: endometriosis, tunisia, bowel obstruction, malignancy, surgery
MeSH terms: Endometriosis / complications, Endometriosis / diagnosis, Intestinal Obstruction / etiology, Rectal Diseases / complications, Rectal Diseases / diagnosis, Rectal Neoplasms / diagnosis, Case Reports, Adult, Diagnosis, Differential, Female, Humans

Endometriosis with intestinal serosal involvement is not uncommon in women of childbearing age. However, endometriosis presenting as colon obstruction is rare and occurs in less than 1% of cases. The Lack of pathognomonic signs makes the diagnosis difficult, mostly because the main differential diagnosis is with neoplasm, even during the intervention. Reported here is a case of a 35-year -old woman presenting with bowel obstruction due to rectal endometriosis. The patient presented signs and symptoms of bowel obstruction. Colonoscopy and radiological findings were suggestive of rectal carcinoma. Surgeons performed an anterior resection with right salpingectomy. Histopathology diagnosed bowel endometriosis. This case demonstrates the difficulty of establishing an accurate pre- and intra- operative diagnosis and the ability of intestinal endometriosis to mimic colon cancer.
Atypical Presentation of Systemic Arthritis in a Toddler with Down Syndrome
Authors: Emily Worley, Weijie Li, Jordan T Jones
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Systemic juvenile idiopathic arthritis (sJIA) is a chronic, inflammatory disease of childhood, which is characterized by the combination of arthritis, serositis, daily, high-spiking fevers, and evanescent macular rash and can present with the life-threatening complication of macrophage activation syndrome (MAS). Children with Down syndrome (DS) have complex medical challenges related to abnormalities in their immune system, which can cause a broad spectrum of disease manifestations, which can occur atypically. Children with DS are at increased risk for arthritis and interstitial lung disease (ILD) associated with sJIA that has high mortality. This case report outlines an atypical presentation of sJIA in a 21-month-old male with DS in which fever was not part of the initial presentation of sJIA and then later developed MAS and ILD. Due to broad spectrum of disease and atypical presentation in children with DS, this case report was created to increase awareness of atypical presentations of rheumatic disease in children with DS.
Christ-Siemens-Touraine Syndrome with Self-mutilation Habit: An Unusual Presentation
Authors: Gurusamy Kayalvizhi, R Neeraja
Journal: Int J Clin Pediatr Dent (2009)
Keywords: christ-siemens-touraine syndrome, ectodermal dysplasia, hypodontia, hypohidrotic, prosthetic treatment, self- mutilation
MeSH terms: Case Reports

Ectodermal dysplasia exhibits a classic triad of hypohidrosis, hypotrichosis, and hypodontia. Self- mutilation could be due to organic or functional causes. The occurrence of selfmutilation with functional cause represents a diagnostic challenge to practitioners. In most of the instances dentists are the first to recognize patient with ectodermal dysplasia as they report primarily with a complaint of missing teeth. The most common type is hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). A thorough knowledge of this disease with multidisciplinary approach aids in successful outcome of the treatment. This is an unusual case report of Christ-Siemens-Touraine syndrome with selfmutilation.
Case Report: A rare case of prosthetic valve infective endocarditis caused by Aerococcus urinae
Authors: Muhammad Adeel, Saman Tariq, Hisham Akthar, Ahmed Zaghloul, Corina Iorgoveanu, Carina Dehner
Journal: F1000Res (2017)
Keywords: aerococcus urinae, infective endocarditis, prosthetic valve endocarditis

Infective endocarditis (IE) is a serious and life-threatening cardiac condition, most commonly caused by staphylococci, Streptococcus viridans, and enterococci. However, in special settings, IE can be caused by rare organisms. Here we present a case of IE caused by Aerococcus urinae in a 75-year-old man with a bioprosthetic aortic valve. Aerococcusurinae is a gram-positive, catalase-negative microorganism and is usually an isolate of complicated urinary tract infections in the elderly male population. Improvements in diagnostic testing including use of matrix-assisted laser desorption ionization- a time of flight mass spectrometry (MALDI-TOF MS) have played an important role in recognition of Aerococcus urinae.
Ectopic ACTH Secretion Secondary to Metastatic Acinic Cell Carcinoma of the Parotid Gland: A Case Report and Review of Current Evidence for Systemic Therapy
Authors: Louise Wade, Paul Kitching, Emma De Winton
Journal: J Investig Med High Impact Case Rep (2020)
Keywords: acth, acinic cell carcinoma, ectopic adrenocorticotrophic hormone, salivary gland tumor
MeSH terms: ACTH Syndrome, Ectopic / etiology, Carcinoma, Acinar Cell / complications, Cushing Syndrome / etiology, Parotid Neoplasms / complications, Case Reports, Review, Adrenocorticotropic Hormone / biosynthesis, Carcinoma, Acinar Cell / metabolism, Carcinoma, Acinar Cell / pathology, Humans, Male, Middle Aged, Parotid Neoplasms / metabolism, Parotid Neoplasms / pathology, Adrenocorticotropic Hormone

Acinic cell carcinoma is a rare, typically indolent, neoplasm that arises in the salivary glands. Metastatic disease is uncommon, occurring in around 10% of cases. We report the case of a 46-year-old male in whom the first sign of disseminated disease was increased skin pigmentation due to paraneoplastic Cushing's syndrome. He underwent 3 cycles of chemotherapy with carboplatin and paclitaxel with no symptomatic improvement and a mixed response on imaging. There is no evidence that systemic therapy prolongs survival in metastatic acinic cell carcinoma, and we lack a consensus as to which treatment options are most beneficial. A summary of published evidence regarding choice of palliative chemotherapy regimens and response is discussed in relation to the case.
Chronic subdural hematoma leading to fatal cavernous sinus thrombosis
Authors: Sunil Kumar, A P Jain, S Jain, S K Kale
Journal: J Emerg Trauma Shock (2009)
Keywords: cavernous sinus thrombosis, chronic, subdural hematoma
MeSH terms: Case Reports

Presented is a case of cavernous sinus thrombosis in a young female with fatal outcome. There were not any septic focus, no history of head trauma, no relation with pregnancy. Computed tomography scan of brain showed chronic subdural hematoma. An attempt is made to correlate the aetiopathology with the clinical features of this rare case presentation.