OpenMed/multicare-articles huggingface dataset:
Why Is Whipple's Disease Still a Challenging Diagnosis? A Case Report and Brief Review of Literature
Authors: Ana Filipa Viegas, Andreia M Lopes, Gabriela Venade, Pedro Rodrigues, João Tavares
Journal: Cureus (2023)
Keywords: delayed diagnosis, periodic acid-schiff staining, polymerase chain reactions, undiagnosed diseases, whipple disease
MeSH terms: Case Reports

Whipple's disease (WD) is a rare multisystemic infectious disease caused by Tropheryma whipplei. The pathogenesis of Whipple's disease remains unknown and clinical experience relies solely on various case reports published in the literature. The disease may occur at any age, with most studies describing patients in their fifth decade. Classic WD mainly affects the gastrointestinal tract, but extraintestinal commitment can occur, with the most common manifestations being arthralgias, lymphadenopathy, fever, and neurological symptoms. We present a case of a 69-year-old woman who presented with fever, macular rash, abdominal pain, lymphadenopathy, pleural and pericardial effusion, weight loss, and severely altered mental status over seven days. Initial workup tests only revealed leucopenia, thrombocytopenia, and hyperferritinemia. Since the fever persisted despite antibiotic treatment, an extensive workup was required until the final diagnosis of classic WD through histological examination of duodenal biopsies. Treatment with ceftriaxone was implemented for two weeks, followed by trimethoprim-sulfamethoxazole 160/800mg bid for 12 months. The patient presented full recovery and no recurrence after three years of follow-up. Even though WD was first described more than a century ago, WD is an elusive disease with a wide variety of clinical findings, leading to a still significant delay in diagnosis. WD should be considered in the differential diagnosis of rheumatologic disorders, chronic abdominal pain or diarrhea, neurological manifestations not suggestive of any other specific disease, non-caseating granulomatous diseases, and cases of lymphadenopathies. The authors aim to add additional clinical data and raise awareness for a rare condition that can be lethal if not timely treated. More studies and recommendations are needed concerning screening patients and treatment, with an urgent need to improve the delay in diagnosis.
CholedochoClip: A Case of Obstructive Jaundice 14 Years after Cholecystectomy
Authors: Grace E Kim, John D Morris, Peter E Darwin
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

Gallstone disease is a common gastrointestinal pathology that may result in surgical intervention. While cholecystectomy has relatively minimal risks, surgical clip migration is a rare complication that can cause severe morbidity and mortality. This report describes a rare phenomenon of a biliary stone forming onto a migrated surgical clip 14 years after cholecystectomy causing an obstructive jaundice. This case illustrates the importance of keeping a migrated surgical clip on the differential when encountering patients with symptoms of cholangitis after cholecystectomy.
Clinical and morphological features of SARS-COV-2 associated acute hemorrhagic necrotizing encephalopathy: case report
Authors: Victor Vladimirovich Ermilov, Nikita Alexeevich Dorofeev
Journal: Egypt J Neurol Psychiatr Neurosurg (2021)
Keywords: acute hemorrhagic necrotizing encephalopathy, endothelial dysfunction, endotheliitis, sars-cov-2
MeSH terms: Case Reports

Background:
The current case report presents acute hemorrhagic necrotizing encephalopathy (AHNE) as an example of a fatal complication, the etiology of which could be coronavirus disease 2019 (COVID-19) with multiple organ damage along with the existing respiratory tuberculosis.
Case presentation:
A male in his 20s had severe symptoms of central nervous system lesion, which developed against the background of COVID-19 and respiratory tuberculosis, for which he was treated in the intensive care unit. Autopsy confirmed that he died from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) associated AHNE in adults with severe fatal endothelial dysfunction and respiratory tuberculosis. The main morphological signs of brain damage were desquamative endotheliitis, thrombosis, parenchymal hemorrhagic necrosis, encephalitis, severe necrobiotic neuronal damage.
Conclusion:
The defeat of endothelial cells with the development of generalized endotheliitis in COVID-19, especially in conjunction with comorbid pathology, in particular tuberculosis, can lead to a fatal complication that affects the nervous system-AHNE. Therefore, it is worth paying close attention to the appearance of neurological symptoms in patients with a similar combination of diseases.
Case Study: Mechanism for Increased Follicular Helper T Cell Development in Activated PI3K Delta Syndrome
Authors: Timothy J Thauland, Laurence Pellerin, Robert S Ohgami, Rosa Bacchetta, Manish J Butte
Journal: Front Immunol (2019)
Keywords: pi3k, t follicular helper cells, activated pi3k delta syndrome (apds), osteopontin, primary immunodeficiency
MeSH terms: Class I Phosphatidylinositol 3-Kinases / metabolism, Primary Immunodeficiency Diseases / diagnosis, Primary Immunodeficiency Diseases / etiology, T-Lymphocytes, Helper-Inducer / immunology, T-Lymphocytes, Helper-Inducer / metabolism, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Adolescent, Alleles, Amino Acid Substitution, B-Lymphocytes / immunology, B-Lymphocytes / metabolism, CD4 Lymphocyte Count, Child, Class I Phosphatidylinositol 3-Kinases / chemistry, Female, Humans, Immunophenotyping, Models, Biological, Models, Molecular, Mutation, Pedigree, Protein Conformation, Structure-Activity Relationship, T-Lymphocyte Subsets / immunology, T-Lymphocyte Subsets / metabolism, T-Lymphocytes, Helper-Inducer / cytology, Class I Phosphatidylinositol 3-Kinases, PIK3CD protein, human, Activated PI3K-delta Syndrome

Gain-of-function variants in p110δ, the catalytic subunit of phosphatidylinositol 3-kinase (PI3K) expressed in lymphocytes, cause activated PI3-kinase δ syndrome (APDS), a primary immunodeficiency that is characterized by recurrent infections, viremia, lymphadenopathy, and autoimmunity. The mechanism of autoimmunity in APDS has not been well-understood. Here, we show the profound skewing of peripheral CD4+ T cells to a T follicular helper (TFH) phenotype in a patient with APDS bearing a novel p110δ variant, Y524S. We also saw a diminishment of transient Foxp3 expression in activated T cells. Mechanistic studies revealed that both the new variant and a previously described, pathogenic variant (E81K) enhanced an interaction between intracellular Osteopontin and p85α. This interaction had been shown in mice to promote TFH differentiation. Our results demonstrate a new influence of PI3K on human T cell differentiation that is unrelated to its lipid-kinase activity and suggest that TFH should be monitored in APDS patients.
Longitudinal Cognitive Performance of Older Adults With ADHD Presenting to a Cognitive Neurology Clinic: A Case Series of Change Up to 21 Years
Authors: Brandy L Callahan, Prathiba Shammi, Rebecca Taylor, Nayani Ramakrishnan, Sandra E Black
Journal: Front Aging Neurosci (2021)
Keywords: adhd, cognition, late life, neuropsychology, older adults

Background: The neuropsychological features of older adults with ADHD are largely unknown. This retrospective chart review aims to elucidate their cognitive trajectories using a case series of six older adults with ADHD presenting with memory complaints to a cognitive neurology clinic, whom we argue are a particularly relevant group to study due to their potential to mimic neurodegenerative syndromes. Methods: Participants were included if they were age 40 or older at intake, had ADHD based on DSM-5 criteria, and had cognitive data collected prior to 2014 with follow-up at least 5 years later. Results: Five men and one woman were included (M = 53.8 years at intake) and had an average of 135.0 months of follow-up data available. Despite notable between- and within-subject variability, cognition generally improved or remained stable across visits. Two participants experienced notable memory decline, but a global consideration of their performance in other domains suggests these deficits may be frontally-mediated. Conclusion: In this small sample, cognition remained generally unchanged across 5-21 years. Isolated impairments likely reflect substantial intra-individual variability across time and measures.
Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome
Authors: Giuseppe Petruzzellis, Diletta Valentini, Francesca Del Bufalo, Giulia Ceglie, Andrea Carai, Giovanna Stefania Colafati, Emanuele Agolini, Francesca Diomedi-Camassei, Tiziana Corsetti, Iside Alessi, Angela Mastronuzzi, Franco Locatelli, Antonella Cacchione
Journal: Front Oncol (2019)
Keywords: braf v600e mutation, brain tumor, down syndrome, pleomorphic xanthoastrocytoma, vemurafenib
MeSH terms: Case Reports

Brain tumors are the most common solid neoplasms of childhood, but they are very rarely reported in children with Down Syndrome (DS), who develop more commonly different types of malignancies. In particular, we hereby report the case of an 8-years-old child with DS that presented to our attention for neurological and endocrinological issues. Brain imaging revealed the presence of a mass that was partially resected revealing a histological diagnosis of Pleomorphic Xanthoastrocytoma (PXA), a rare WHO grade II tumor extending from the diencephalic region into the surrounding brain tissue. These tumors can harbor the BRAF mutation p.V600E, targetable by the specific inhibitor Vemurafenib. After confirming the presence of the mutation in the tumor, the patient was treated with Vemurafenib. The treatment proved to be effective, leading to a partial response and a stabilization of the disease. Usually, in patients with DS a reduction of the dose of chemotherapeutic drugs is necessary. Vemurafenib was instead well-tolerated as the only observed adverse effect was grade I skin toxicity. This is, to our knowledge, the first case of a PXA reported in a child with DS and the first DS patient treated with Vemurafenib.
Spontaneous rupture of superficial femoral artery aneurysm: case report
Authors: Marcio Miyamotto, João Márcio Dos Santos Biscardi, Cristina Detoni Trentin, Rafael Malucelli Machado, Bruna Zimmerman Angelo, Danielle Côrrea de Andrade, Cintia Lopes Raymundo, Bruno Moraes Ribas
Journal: J Vasc Bras (2019)
Keywords: aneurysm, arterial bypass, superficial femoral artery
MeSH terms: Case Reports

Isolated true aneurysms of the superficial femoral artery (SFA) are rare, accounting for 0.5% of peripheral aneurysms. The literature up to 2012 contains reports of just 103 patients with isolated SFA aneurysms. The main complications are thrombosis, distal embolization, and rupture, which is the most common of the three. The authors report the case of a 55-year-old male patient admitted to the emergency service with pain and a pulsatile mass in the left thigh, subsequently confirmed as rupture of an SFA aneurysm. The patient underwent open aneurysm repair with ligature and revascularization with a reversed saphenous vein bypass.
Endodontic management of a maxillary molar with three mesiobuccal canals
Authors: Sirisha Gundam, Radhika Maddu, Sindhura Reddy Gurram
Journal: Case Rep Dent (2014)

It is imperative that the clinician should have comprehensive knowledge about the normal anatomy and its variations of the teeth as the deviations from the usual are very common. An increased awareness of unusual anatomy and a better understanding of the root canal system guide the clinician in accurate diagnosis and treatment of such variations in order to achieve a successful endodontic outcome. The maxillary first molar has been shown to have a wide variation in respect to the number of canals specifically noted in the mesiobuccal root. The current case report shows the successful management of a maxillary molar in which the mesiobuccal root had three canals.
Unexpected Death of a Child with Complex Febrile Seizures-Pathophysiology Similar to Sudden Unexpected Death in Epilepsy?
Authors: Brian J Dlouhy, Michael A Ciliberto, Christina L Cifra, Patricia A Kirby, Devin L Shrock, Marcus Nashelsky, George B Richerson
Journal: Front Neurol (2017)
Keywords: epilepsy, febrile seizures, sudden death in the young, sudden infant death syndrome, sudden unexpected death in epilepsy, sudden unexpected infant death, sudden unexplained death in childhood
MeSH terms: Case Reports

Febrile seizures are usually considered relatively benign. Although some cases of sudden unexplained death in childhood have a history of febrile seizures, no documented case of febrile seizure-induced death has been reported. Here, we describe a child with complex febrile seizures who died suddenly and unexpectedly after a suspected seizure while in bed at night during the beginning phases of sleep. She was resuscitated and pronounced brain dead 2 days later at our regional medical center. Autopsy revealed multiorgan effects of hypoperfusion and did not reveal an underlying (precipitating) disease, injury, or toxicological cause of death. Although a seizure was not witnessed, it was suspected as the underlying cause of death based on the medical examiner and forensic pathologist (author Marcus Nashelsky) investigation, the post-resuscitation clinical findings, and multiple aspects of the clinical history. The child had a history of complex febrile seizures that had previously caused apnea and oxygen desaturation. She had two febrile seizures earlier on the same day of the fatal event. Interestingly, her mother also experienced a febrile seizure as a child, which led to respiratory arrest requiring cardiorespiratory resuscitation. This case suggests that in a child with complex febrile seizures, a seizure can induce death in a manner that is consistent with the majority of cases of sudden unexpected death in epilepsy (SUDEP). Further work is needed to better understand how and why certain individuals, with a history of epilepsy or not, die suddenly and unexpectedly from seizures. This will only occur through better understanding of the pathophysiologic mechanisms underlying epileptic and febrile seizures and death from seizures including SUDEP.
Emphysematous pyelonephritis in an infant from Sokoto, north-western Nigeria
Authors: Fatima B Jiya, Paul K Ibitoye, Nma M Jiya, Maryam Amodu-Sanni, Yahaya Mohammed, Dada M Aquib, Lukman K Coker
Journal: Afr J Lab Med (2021)
Keywords: emphysematous pyelonephritis, sokoto, infant, infection, kidney
MeSH terms: Case Reports

Introduction:
Emphysematous pyelonephritis is a life-threatening necrotising bacterial infection of the kidneys. It is rare among children and can be fatal if not promptly identified and treated.
Case presentation:
A 7-month-old male infant presented to the Emergency Paediatric Unit of Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria, on 12 November 2019 with a 5-day history of fever and vomiting, and a 3-day history of a progressively enlarging, left-side abdominal mass. There was associated excessive crying on micturition, refusal to feed and weight loss. He looked ill and was in respiratory distress, irritable, febrile (38.8 °C), moderately dehydrated and pale. His weight and length were 5.5 kg and 64 cm. He had a tender, firm and ballotable abdominal mass on the left flank measuring 8 cm × 10 cm. His pulse rate was 140 beats/min, blood pressure 60/40 millimetres of mercury and respiratory rate was 65 cycles/min. He had widespread coarse crepitations and normal heart sounds on chest auscultation.
Management and outcome:
An initial diagnosis of sepsis was made. Other considerations were nephroblastoma and neuroblastoma. Ceftriaxone and blood transfusion were commenced with subsequent administration of intravenous fluids. Further radiologic investigations revealed emphysematous pyelonephritis. The patient had percutaneous drainage and extended spectrum β-lactamase-producing Escherichia coli (sensitive to meropenem) which was isolated from the aspirate culture after 48 h of incubation. Meropenem could not be commenced because of non-availability and high cost. The patient subsequently deteriorated and died from septic shock.
Conclusion:
Emphysematous pyelonephritis has a fulminant course when not diagnosed promptly and treated adequately.
Spontaneous intestinal perforation: an atypical presentation of neutropenic enterocolitis-a case report
Authors: Aylin Canbolat Ayhan, Cetin Timur, Ersin Bocu, Neslihan Gulcin
Journal: Case Rep Hematol (2014)

Background. Neutropenic enterocolitis is one of the most common gastrointestinal complications seen in patients who are receiving chemotherapy for leukemia. Severe neutropenia is the main underlying factor of this pathology. It is characterized by fever and abdominal pain. Case Presentation. Herein, we report a case of neutropenic enterocolitis which presented with intestinal perforation in an afebrile patient who was diagnosed with acute lymphoblastic leukemia and was receiving induction chemotherapy. Conclusion. We aimed to emphasize the importance of enterocolitis and increase awareness against such severe complications which could have unexpected presentations.
Subconjunctival silicone oil complicating strabismus surgery
Authors: Shailja Tibrewal, Rolli Khurana, Ramesh Venkatesh, Suma Ganesh
Journal: GMS Ophthalmol Cases (2019)
Keywords: exotropia, silicone oil, strabismus, subconjunctival fibrosis
MeSH terms: Case Reports

Purpose: To report a case of an otherwise simple strabismus surgery that became complex due to the presence of extensive subconjunctival silicone oil. Methods: A 15-year-old boy underwent strabismus surgery for sensory exotropia. He had undergone two prior vitreoretinal surgeries for traumatic endophthalmitis and retinal detachment, respectively. The second procedure involved injection of silicone oil as an endotamponade. During the strabismus surgery, subconjunctival nodules filled with silicone oil were noted. This made the surgery difficult due to episcleral fibrosis. The multiple silicone oil cysts were removed by rupturing or resecting them along with the tenon's fascia. The extraocular muscles were meticulously isolated and operated using adjustable suture technique. Results: Following surgery, the strabismus was corrected satisfactorily and the patient was relieved of his ocular discomfort and congestion. Conclusions: Subconjunctival leakage of silicone oil can lead to capacious inflammation and complicate strabismus surgery manifold.
Tuberculosis-Associated HLH in an 8-Month-Old Infant: A Case Report and Review
Authors: Holger Hauch, Susanne Skrzypek, Wilhelm Woessmann, Kai Lehmberg, Stephan Ehl, Carsten Speckmann, Emmanuel Schneck, Dieter Koerholz, Christian Jux, Christoph Neuhäuser
Journal: Front Pediatr (2020)
Keywords: ecmo, case report, extracorporeal membrane oxygenation, hemophagocytic lymphohistiocytosis, infant, lung failure, tuberculosis
MeSH terms: Case Reports

Hemophagocytic lymphohistiocytosis (HLH) is a rare immunological disease, which can be mistaken for sepsis easily. Among the infectious causes that may trigger secondary HLH, tuberculosis (TBC), a rather rare pathogen nowadays, is typical. To our knowledge, this is the first case report of an infant suffering from TBC-associated HLH-induced acute respiratory failure who was treated successfully using extracorporeal membrane oxygenation. An 8-month-old boy with fever (over the last 8 wk) and pancytopenia was transferred to our institution with acute respiratory failure and for extracorporeal membrane oxygenation therapy. Bone marrow biopsy revealed hemophagocytosis. Immunological work-up for familial HLH was negative. In a desperate search for the cause of secondary HLH, an interferon-gamma release assay for TBC returned positive. However, microscopy for acid-fast bacteria as well as polymerase chain reaction for TBC were initially negative. Despite this, the child was treated with tuberculostatic therapy. TBC was finally confirmed. The child remained on extracorporeal membrane oxygenation for 28 d. Further work-up showed typical lesions of disseminated TBC. The mother was identified as the source of TBC. The boy presents with mild sequelae (fine motor skills). In infants with suspected septicemia, TBC should be considered as differential diagnosis even if the results are initially negative.
Spontaneous Bilateral Tubal Gestation: A Rare Case Report
Authors: Marwah Sheeba, Gupta Supriya
Journal: Case Rep Obstet Gynecol (2016)

Here a case is presented where the woman after a positive pregnancy test underwent medical abortion for unwanted pregnancy without ultrasound confirmation of intrauterine pregnancy. On persistence of symptoms, a second opinion was procured, when examination and a transvaginal ultrasound scan revealed ruptured unilateral tubal ectopic pregnancy. However upon subsequent laparotomy (considering deteriorating hemodynamic status of the patient), intraoperatively it turned out to be a bilateral tubal ectopic gestation.
An incidental finding of chronic lymphocytic leukaemia in a patient with pulmonary tuberculosis
Authors: Victoria R Parker, Jaclyn A Bennet, Ian M Sanne
Journal: S Afr J Infect Dis (2020)
Keywords: chronic lymphocytic leukaemia, haematology, infectious diseases, leukaemia, tuberculosis

In this case report, we described a 48-year-old human immunodeficiency virus-negative man with pulmonary tuberculosis (TB) who had an incidental finding of concurrent chronic lymphocytic leukaemia. We highlighted the importance of considering other differential diagnoses when patients present with TB or haematological malignancies. We also discussed the difficulties in diagnosis when both of these conditions co-exist and how this affected treatment and management.
Odontogenic myxoma of the maxilla: A report of a rare case and review of the literature
Authors: Sasidhar Singaraju, Sangeetha P Wanjari, Rajkumar N Parwani
Journal: J Oral Maxillofac Pathol (2010)
Keywords: odontogenic myxomas, fibromyxoma, odontogenic tumors
MeSH terms: Case Reports

Odontogenic myxoma represents an uncommon benign neoplasm comprising of 3-6% of all odontogenic tumors. This article presents a rare case of odontogenic myxoma occurring in the maxilla of a 7-year-old male patient with a brief review of the pathogenesis, clinical, radiological, histopathological, ultrastructural and immunohistochemical characteristics of odontogenic myxoma.
Brain abscesses and intracranial empyema due to dental pathogens: Case series
Authors: Charlène Kichenbrand, Alix Marchal, Alizée Mouraret, Nasr Hasnaoui, Julie Guillet, Fabien Rech, Berengère Phulpin
Journal: Int J Surg Case Rep (2020)
Keywords: brain abscess, intracranial empyema, odontogenic, oral infection, streptococci, teeth

Introduction:
Spontaneous brain abscess and intracranial empyema are rare but life-threatening diseases. They can result from potential complications of oral chronic infections. Given the similarity between most of the germs commonly found both in cerebral abscess and in oral cavity and its anatomic proximity, the oral cavity represents a major source of cerebral infections.
Presentation of cases:
We report here a series of seven cases of intracranial abscesses and empyema due to dental pathogens that occurred in the neurosurgery department of our institute. Five of those seven cases were then cared in the oral surgery department of our institute.
Discussion:
Bacteriological examination of the brain abscesses identified an oral commensal bacterium belonging to streptococci group in six patients (85.7%) and Porphyromonas Gingivalis, a pathogen oral germ involved in periodontal diseases in the seventh patient. For all patients examined, oral status and oral health were poor or moderate with the presence of dental caries, missing teeth and abundant dental plaque. Except the oral cavity, no other front door or infectious site were found.
Conclusion:
This rare series of cases highlights the importance of systematically explore the oral cavity in presence of intracranial infection and to radically eradicate the potential infectious foci.