OpenMed/multicare-articles huggingface dataset:
A Rare Presentation of Polypoid Endometriosis of the Douglas Pouch: Case Report
Authors: Emilie Demondion, Yves Borghesi, Nathalie Trouillet
Journal: J Belg Soc Radiol (2024)
Keywords: endometriosis, granulosa cell tumor, magnetic resonance imaging (mri), ovarian neoplasms, pelvis neoplasm
MeSH terms: Case Reports

A case is reported of a 46-year-old woman referred to a magnetic resonance imaging (MRI) for menometrorrhagia. MRI revealed a mass lesion lateral to the uterus fundus, suspicious of an ovarian granulosa cell tumor. Extensive surgery was performed. Histological examination revealed a polypoid endometriosis lesion arising from the Douglas pouch. Teaching point: Polypoid endometriosis is a rare benign entity with a challenging differential diagnosis from malignancy. Specific MRI features can contribute to the diagnosis and thus avoid excessive surgical resection.
Neurosarcoidosis and Transverse Myelitis: Life-Threatening Manifestations of Sarcoidosis
Authors: Mitwa Patel, Sheena Shiwlani, Meet Popatbhai Kachhadia, Mohamed Abdalla, Iqra Samreen, Alaa S Mohamed, Hira Nasir
Journal: Cureus (2024)
Keywords: longitudinally extensive transverse myelitis, neurosarcoidosis, non-caseating granulomas, sarcoidosis, transverse myelitis
MeSH terms: Case Reports

Sarcoidosis, a systemic granulomatous disorder, typically involves the lungs, skin, and lymph nodes. Neurological manifestations are diverse and may include longitudinally extensive transverse myelitis (LETM), an uncommon inflammatory disorder of the spinal cord. We present a case of a 62-year-old female with LETM as the initial manifestation of sarcoidosis. The patient exhibited progressive bilateral lower extremity weakness, urinary retention, and sensory disturbances. Diagnostic workup revealed characteristic findings on spinal magnetic resonance imaging (MRI), cerebrospinal fluid analysis, and thoracic biopsy. Treatment with high-dose corticosteroids and subsequent immunomodulatory therapy resulted in significant improvement. Our case highlights the importance of including sarcoidosis in the differentials of LETM, particularly in patients with no respiratory manifestations.
A Challenging Case of Genetically and Histologically Diagnosed Pulmonary Veno-Occlusive Disease with Extracorporeal Life Support and Redo Lung Transplantation
Authors: Mohamed Laimoud, Ziyad Alanazi, Fayez Alahmadi, Abdullah Aldalaan
Journal: Case Rep Cardiol (2023)
MeSH terms: Case Reports

Background:
Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary arterial hypertension characterized by diffuse venous vasculopathy and increased pulmonary vascular resistance resulting in right-sided heart failure. Case Presentation. A 22-year-old female patient started to have dyspnea with minimal effort and was diagnosed to have pre-capillary pulmonary hypertension (PH) with right-sided heart failure. Initially, she was diagnosed to have idiopathic PH. She developed life-threatening pulmonary oedema and cardiogenic shock after pulmonary vasodilator therapy. A genetic study was done and revealed the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) gene on chromosome 15, which was diagnostic to heritable PVOD. After failure to achieve hemodynamic stabilization with conventional cardiopulmonary support measures, extracorporeal membrane oxygenation (ECMO) supported her till bilateral lung transplantation, which was unfortunately complicated by acute graft rejection. After a prolonged intensive care unit stay with 4-month ECMO support, the second bilateral lung transplantation was done, and the patient survived and was discharged.
Conclusions:
Clinical recognition of PVOD is crucial due to its challenging diagnosis, need for genetic study, rapid deterioration with pulmonary vasodilators, and bad prognosis. Lung transplantation is the definitive treatment for eligible candidates.
Case Report: Metagenomic next-generation sequencing assists in dynamic pathogen monitoring: powerful tool for progressing severe pneumonia
Authors: Yaoguang Li, Jun Lei, Zhigang Ren, Xiaoxu Ma
Journal: Front Cell Infect Microbiol (2023)
Keywords: case report, community-acquired pneumonia, extracorporeal membrane oxygenation, influenza, metagenomic next-generation sequencing, pathogen detection
MeSH terms: Cross Infection, Influenza, Human / diagnosis, Methicillin-Resistant Staphylococcus aureus, Pneumonia, Staphylococcal / diagnosis, Review, Case Reports, Adolescent, High-Throughput Nucleotide Sequencing, Humans, Male

Background:
Severe community-acquired pneumonia (sCAP) is life-threatening and characterized by intensive care unit (ICU) admission and high mortality. And they are vulnerable to hospital-acquired infection. In such a severe condition, metagenomic next-generation sequencing (mNGS) outperforms for short turnaround time and broad detection spectrum.
Case presentation:
A 15-year-old male with severe influenza and methicillin-resistant Staphylococcus aureus (MRSA) pneumonia progressed rapidly, initially misdiagnosed as influenza co-infected with Aspergillus for misleading bronchoscopy manifestations. The turnaround time of mNGS is 13 h, which has the potential to expedite the clinical medication process. With the powerful support of mNGS and extracorporeal membrane oxygenation (ECMO), anti-infective therapy was adjusted accordingly, and vital signs gradually stabilized. After tortuous treatment and unremitting efforts, the patient recovered well.
Conclusions:
Rapid mNGS applications, timely medication adjustments, strong ECMO support and active family compliance contribute to this miracle of life. False-negative or false-positive results are alarming, anti-infective medications should be adjusted after a comprehensive review of physical status and other indicators.
Case Report: Common variable immunodeficiency phenotype and granulomatous-lymphocytic interstitial lung disease with a novel SOCS1 variant
Authors: María Soledad Caldirola, Espantoso Daiana, Andrea Cecilia Gomez Raccio, Ana Luz García, Agustin Bernacchia, Martín Medín, Maria Isabel Gaillard, Daniela Di Giovanni
Journal: Front Pediatr (2024)
Keywords: glild, socs1, common variable immunodeficiency, granulomatous–lymphocytic interstitial lung disease, inborn errors of immunity
MeSH terms: Case Reports

Common variable immunodeficiency is a heterogeneous symptomatic group of inborn errors of immunity that mainly affects antibodies production and/or function, predisposing patients to recurrent and severe infections. More than half of them usually develop autoimmunity, lymphoproliferation, enteropathy, and malignancies. Among these conditions, chronic lung disease such as granulomatous-lymphocytic interstitial lung disease is one of the leading causes of death in these patients. Recently, many genes that play a key role in B and T cells' development, maintenance, and/or cytokines signaling pathways have been implicated in the pathogenesis of the disease. Here, we describe the first Argentinian patient presenting with common variable immunodeficiency and granulomatous-lymphocytic interstitial lung disease, harboring two in cis heterozygous variants in the SOCS1 gene.
Spontaneous rupture of the plantar fascia: a case report
Authors: Michele Venosa, Emilio Romanini, Lorenzo Vitale, Giandomenico Logroscino
Journal: Front Rehabil Sci (2024)
Keywords: case report, physical therapy, plantar fascia, plantar fascia rupture, rehabilitation
MeSH terms: Case Reports

Introduction:
The rupture of the plantar fascia is a rare but significant injury that predominantly affects athletes and individuals engaged in high-impact activities. Sudden increases in physical activity, direct trauma, corticosteroid injections, and chronic degeneration from plantar fasciitis can predispose individuals to rupture. It can involve a complete or partial tear of the plantar fascia fibers, leading to a loss of structural integrity and functional support. The tear may occur at the origin, mid-portion, or insertion of the fascia. Spontaneous ruptures of the plantar fascia (occurring without any predisposing factors) are rarely observed in clinical practice. No guidelines or other unequivocal recommendations are available for this pathological condition.
Method:
A healthy 35-year-old male who works in an office setting and is a recreational cyclist with a silent clinical anamnesis experienced a spontaneous rupture of the plantar fascia of the left foot with no history of trauma. He exhibited significant localized tenderness and swelling in the medial arch of the left foot with difficulty bearing weight on the affected foot. An MRI confirmed a partial rupture of the medial cord of the plantar fascia accompanied by surrounding inflammation. The patient underwent conservative treatment, which included rest, immobilization, physiotherapy (ultrasound therapy, high-power laser therapy, and transcutaneous electrical nerve stimulation), rehabilitation, and a gradual return to activity.
Results:
At the 12-week follow-up, the patient reported a significant reduction in pain and marked improvement in functional mobility (as confirmed by VAS and Foot Function Index scores). Physical examination showed no tenderness, and the patient could bear full weight on the foot without discomfort. A follow-up ultrasound demonstrated complete resolution of the plantar fascia rupture and no residual inflammation.
Discussion:
This case underscores the effectiveness of an integrated rehabilitative approach and provides a framework for managing similar cases in clinical practice.
Is Exploration of Alternate Immune Pathways Needed in Hidradenitis Suppurativa? A Case of Atopic Dermatitis and Concurrent Hidradenitis Suppurativa Responding to Dupilumab
Authors: Sean McCormack, Noor Tazudeen, Benjamin C Garden
Journal: Case Rep Dermatol Med (2023)
MeSH terms: Case Reports

Hidradenitis suppurativa (HS) is an inflammatory dermatosis associated with overactive T helper 1/T helper 17 (Th1/Th17) cells. HS has been effectively treated with biologic medications; however, many such biologics lack large randomized controlled trials. Only one such biologic, adalimumab, has been approved by the US Food and Drug Administration (FDA) for the treatment of HS. Other such biologics currently being studied for HS downregulate Th1/Th17 inflammatory pathways. We describe a patient with atopic dermatitis (AD) and comorbid HS, both of which improved several months into treatment with dupilumab. Interestingly enough, dupilumab targets Th2-mediated inflammatory skin conditions through the inhibition of IL-4/IL-13 cytokines. While dupilumab is known for its success in treating Th2-mediated inflammation, this presents a paradox as HS is a Th1/Th17 inflammatory condition. This case highlights how the inflammatory process of HS is not fully understood and how biologic pharmacologic interventions need to be further studied to determine their efficacy in treating HS.
Neurological Sequelae After Acute Carbon Monoxide Poisoning
Authors: Bhushan Sudhakar Wankhade, Wasim Shabbir Shaikh, Zeyad Faoor Alrais, Adel Elsaid ElKhouly, Ammar Ali Salman
Journal: Cureus (2024)
Keywords: burns, carbon monoxide poisoning, delayed neurological sequelae, hyperbaric oxygen therapy, parkinsonian symptoms
MeSH terms: Case Reports

Carbon monoxide poisoning (COP) is a common cause of death due to poisoning. After COP, a significant number of patients may develop a distinct type of neurological dysfunction called delayed neurological sequel (DNS). Recently, we came across a disaster of COP cases after a fire in a shared accommodation. The hostel was overcrowded and had a faulty air-conditioning/exhaust system. A total of five patients with loss of consciousness and shock were brought to us. They were diagnosed with acute COP based on their history of exposure to carbon monoxide (CO) and elevated carboxyhemoglobin levels in blood gas measurements. All patients were intubated and mechanically ventilated. Standard intensive care management was given to them, which included oxygenation, sedation, fluid resuscitation, and vasopressors. Their carboxyhemoglobin was rapidly reversed with normobaric oxygen therapy (NBO2). Three patients showed good response and neurological recovery after NBO2. Unfortunately, two patients developed DNS. DNS is a neuropsychological condition that may have cognitive, psychiatric, vestibulocochlear, motor, sensory, or diffuse demyelinating effects after COP. DNS is diagnosed in patients with a typical history of exposure to CO and a constellation of signs and symptoms. Neuroimaging, specifically magnetic resonance imaging of the brain with gadolinium contrast, is the method of choice for diagnosis. Treatment of DNS after COP begins with anticipation. All patients should receive appropriate oxygen therapy to bring down carboxyhemoglobin as soon as possible. Hyperbaric oxygen therapy (HBO2) for the treatment of COP and prevention of DNS is still debatable. In the available medical literature, there are conflicting recommendations regarding the use of HBO2 in COP/DNS. Moreover, apart from a lack of consensus, there is also a lack of clarity about optimum timing, duration, atmospheric pressure, and number of sessions of HBO2 in preventing DNS after COP. The development of DNS after COP is not directly responsible for mortality, but recovery sometimes takes a long time, which can contribute to increased morbidity and costs of treatment.
A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression
Authors: Li Zhang, Zhen-Xia Wan, Jin-Yi Zhu, Hui-Juan Liu, Jin Sun, Xiao-Hui Zou, Ting Zhang, Yan Li
Journal: Case Rep Pediatr (2024)
MeSH terms: Case Reports

Benign familial infantile seizure (BFIS) is an autosomal dominant infantile-onset epilepsy syndrome with a typically benign prognosis. It is commonly associated with heterozygous mutations of the PRRT2 gene located on chromosome 16p11.2. The frameshift heterozygous mutation (c.649dupC, p.Arg217Profs∗8) in PRRT2 is responsible for the majority of BFIS cases. In this report, we present a rare case of a girl with a confirmed clinical and genetic diagnosis of BFIS due to a frameshift heterozygous mutation in PRRT2 (c.649dupC). She exhibited typical neurodevelopment until 15 months of age, followed by an unexpected severe autistic regression. In addition to BFIS, PRRT2 mutations are also associated with paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions and paroxysmal choreoathetosis (ICCA), indicating a complex genotype-phenotype heterogeneity in PRRT2 mutations. This clinical observation highlights the possibility that BFIS patients with PRRT2 mutations may not always have a benign neurodevelopmental prognosis, emphasizing the need for long-term clinical follow-up.
Hyperthyroidism in non-seminomatous testicular germ cell tumors: two case reports and literature review
Authors: Diletta Favero, Christoph Oing, Christoph Seidel, Pasquale Rescigno, Fabio Catalano, Malvina Cremante, Sara Elena Rebuzzi, Federico Gatto, Giovanni Rosti, Diego Ferone, Giuseppe Fornarini, Francesco Cocchiara
Journal: Front Oncol (2024)
Keywords: tsh receptor, human chorionic gonadotropin, hyperthyroidism, non-seminomatous testicular germ cell tumors, thyrotoxicosis
MeSH terms: Case Reports

Background:
Human chorionic gonadotropin (hCG)-induced hyperthyroidism is a rare paraneoplastic syndrome observed in non-seminomatous testicular germ cell tumors, due to a cross-reaction between the β-subunit of hCG with the thyroid-stimulating hormone receptor. The precise prevalence of this paraneoplastic phenomenon is unclear as, in the majority of cases, hyperthyroidism remains subclinical.
Case presentation:
Here, we present two cases of advanced metastatic non-seminomatous testicular germ cell tumors where patients exhibited signs and symptoms of thyrotoxicosis at primary diagnosis due to excessive serum β-hCG elevation, with complete remission of symptomatology after the start of oncological treatments and no signs of relapse at the time of publication of this report. Additionally, we provide a comprehensive review of the existing literature concerning this uncommon occurrence.
Conclusion:
Despite being a rare event, the presence of hyperthyroidism or thyrotoxicosis without clear etiology in a young man should lead to consider less frequent causes such as testicular tumors. Even if patients typically have mild symptoms that resolve after chemotherapy, in rare cases, it can be a life-threatening condition that requires prompt recognition and specific intervention.
A double-edged sword: unusual multiple severe infections with pralsetinib: a case report and literature review
Authors: François Poumeaud, Marion Jaffrelot, Carlos Gomez-Roca, Iphigénie Korakis, Giulia Leonardi, Marine Joly, Julien Mazières, Rosine Guimbaud, Nadim Fares, Emily Alouani
Journal: Front Med (Lausanne) (2024)
Keywords: jak/stat, ret inhibitor, case report, infection, pralsetinib
MeSH terms: Case Reports

Selective rearranged during transfection (RET) tyrosine kinase inhibitor, pralsetinib, demonstrated clinical efficacy and was well tolerated in lung and thyroid cancers with RET gene mutations or fusions in clinical trials. While the latter focused on the risk of pneumonitis, there is a lack of data regarding other types of infectious risks associated with pralsetinib. Herein, we report the case of a 53-year-old patient with a CCDC6-RET fusion neuroendocrine tumor, who achieved a partial response with pralsetinib as the fifth-line therapy. Of particular note, during pralsetinib therapy, the clinical course was complicated by five severe infectious events, namely, two oxygen-requiring pneumonias, two distinct spondylodiscitis, and one pneumocystis. Our study highlights the increased risk of any type of opportunistic infectious event with pralsetinib, but not selpercatinib, which is probably caused by off-target JAK1/2 inhibition.
Total Hip Arthroplasty in Ankylosing Spondylitis: A Case Report of Ankylosed Hip
Authors: Kevin Kawde, Khizar K Khan, Gajanan Pisulkar, Shounak Taywade, Adarsh Jayasoorya
Journal: Cureus (2024)
Keywords: ankylosing spondylitis, hip joint, osteoarthritis, rehabilitation, total hip arthroplasty
MeSH terms: Case Reports

Ankylosing spondylitis (AS) is a chronic inflammatory arthritic disease that primarily affects the axial skeleton, and its association with the secondary development of osteoarthritis (OA) in peripheral joints, particularly the hips, is increasingly recognized. This case report elucidates the diagnostic and therapeutic challenges encountered in a patient with bilateral hip osteoarthritis secondary to AS. The patient's medical history included AS and a failed attempt at core decompression of the left hip joint. The patient was managed with total hip arthroplasty (THA) on the left side due to persistent symptoms. Total hip arthroplasty on the left side involved a meticulous surgical approach, addressing the unique challenges posed by underlying ankylosis. The procedure was conducted uneventfully, with the implantation of a modular femoral head, uncemented femoral stem, and modular shell. Postoperatively, the patient experienced significant pain relief and improved functionality. Successful rehabilitation and management were integral to the overall positive outcome. This case report highlights the complex interplay between AS and hip osteoarthritis, emphasizing the importance of tailored diagnostic and therapeutic strategies. Successful total hip arthroplasty in the setting of AS-related hip osteoarthritis suggests that joint replacement can be effective, but ongoing research is necessary to optimize surgical planning and long-term outcomes in this patient population.
Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor
Authors: Weili Luo, Xiaosheng Zheng, Zhiru Lin, Wei Luo
Journal: Tremor Other Hyperkinet Mov (N Y) (2024)
Keywords: ppp2r2b, spinocerebellar ataxia type 12, essential tremor
MeSH terms: Essential Tremor / diagnosis, Essential Tremor / genetics, Essential Tremor / physiopathology, Phenotype, Spinocerebellar Ataxias / complications, Spinocerebellar Ataxias / diagnosis, Spinocerebellar Ataxias / genetics, Spinocerebellar Ataxias / physiopathology, Tremor / diagnosis, Tremor / genetics, Tremor / physiopathology, Case Reports, Adult, Diagnosis, Differential, Female, Humans, Spinocerebellar Ataxia 12

Background:
The tremor characteristics of patients with spinocerebellar ataxia 12 (SCA12) are often likened to those in patients with essential tremor (ET); however, data are sparse, and videotaped tremor examinations are rare.
Case report:
A 37-year-old woman with progressive hand and head tremors underwent genetic testing after conventional diagnostics failed to explain her symptoms. A PPP2R2B variation confirmed spinocerebellar ataxia type 12 (SCA12), a condition not previously considered because classical cerebellar signs were absent. The tremor characteristics of this patient differed in numerous respects from those seen in patients with ET.
Discussion:
Although often likened to ET, under careful scrutiny, the tremor characteristics observed in this patient with SCA12 were inconsistent with those typically seen in ET. Such discrepancies highlight the necessity of careful phenotyping for tremor disorders, particularly in familial cases. Recognizing the specific tremor phenomenology of SCA12 and distinguishing it from ET is crucial to avoid misdiagnosis and to guide appropriate management and familial counseling.
Highlights:
This report characterizes in detail an early-stage SCA12 patient initially misdiagnosed as essential tremor, underscoring the importance of nuanced clinical assessment and genetic testing in atypical tremor cases. Similar patients should be meticulously phenotyped to prevent misclassification and enhance our understanding of tremor pathophysiology.
Case report: Uncommon gastric metastasis as a presentation of recurrent clear cell renal cell carcinoma
Authors: Josep Sabaté-Ortega, Marc Albert-Carrasco, Carmen Escribano-Ferrer, Gerard Grau-Manrubia, Clàudia Fina-Planas, Carme López-Núñez, Eduard Teixidor-Vilà, Elisabet Bujons-Buscarons, Clàudia Montañés-Ferrer, Núria Sala-González
Journal: Front Oncol (2024)
Keywords: gastric metastasis, pathophysiology, prognostic markers, renal cell carcinoma, targeted therapy
MeSH terms: Case Reports

Renal cell carcinoma (RCC) is a kidney neoplasm that accounts for 85% of cases and has complex genetic pathways that affect its development and progression. RCC metastasis can occur in 20%-50% of patients and usually affects distant organs. Gastric metastases (GM) from RCC are rare and present as polyp-like growths in the submucosal layer, accounting for 0.2%-0.7% of cases. This case report describes an 84-year-old female with Furhman grade II ccRCC who presented with an atherothrombotic ischemic stroke and gastrointestinal bleeding nine years post-radical nephrectomy. Gastroscopy revealed a 12mm pseudopedicled gastric lesion with ulceration and bleeding, diagnosed as metastatic ccRCC. The discussion focuses on the rarity, diagnostic challenges, and prognostic elements of gastric metastasis from RCC. The median survival after detecting digestive metastasis varies widely, and the mechanisms include direct invasion and dissemination through lymphatic, transcelomic, or hematogenous routes. Prognostic markers encompass patient history, symptoms, time since RCC diagnosis, overall health, and genetic factors. Surgical removal of gastric lesions and targeted therapy are treatment options that can improve survival. This case report highlights the need for further research to enhance diagnostic and treatment strategies for this rare aspect of RCC pathophysiology.