OpenMed/multicare-articles huggingface dataset:
Suprasellar pilocytic astrocytoma with leptomeningeal dissemination
Authors: Siti S Mohamad Zaini, Hilwati Hashim, Emy S Rosani, Nor S Bakar, Suryati Mohd Yusoff
Journal: SA J Radiol (2024)
Keywords: leptomeningeal, low-grade tumour, metastasis, pilocytic astrocytoma, suprasellar
MeSH terms: Case Reports

Leptomeningeal dissemination is a rare manifestation of pilocytic astrocytoma. It may occur with higher-grade tumours like medulloblastoma, ependymoma and high-grade glioma, but is extremely rare with low-grade glioma. There has been a growing number of reported cases documenting leptomeningeal dissemination of pilocytic astrocytoma in the medical literature.
Contribution:
Description of a World Health Organization (WHO) Grade I suprasellar pilocytic astrocytoma with leptomeningeal dissemination in the brain and spinal cord which showed progression of the leptomeningeal nodules without tumour upgrading on long-term follow-up.
Case report: Analysis of a gene variant and prenatal diagnosis in a family with megalencephalic leukoencephalopathy with subcortical cysts
Authors: Xi Chen, Haibo Qu, Qiang Yao, Xiaotang Cai, Tiantian He, Xuemei Zhang
Journal: Front Neurol (2023)
Keywords: mlc, mlc1, clinical phenotype, genetic counseling, leukodystrophy, prenatal diagnosis, splice mutation
MeSH terms: Case Reports

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited cerebral white matter disorder in children. Pathogenic variations in the causative gene MLC1 are found in approximately 76% of patients and are inherited in an autosomal recessive manner. In this study, we identified an IVS2 + 1delG variant in MLC1 in the firstborn girl of a pregnant woman who has the clinical features of MLC, including macrocephaly, motor development delay, progressive functional deterioration, and myelinopathy, whereas no obvious subcortical cysts were observed by magnetic resonance imaging of the brain. The proband is homozygous for the IVS2 + 1delG mutation, which was inherited from the parents. This variant disrupts the donor splice site, causing an abnormal transcript that results in a premature termination codon and produces a truncated protein, which was confirmed to affect splicing by MLC1 cDNA analysis. This variant was also detected in family members, and a prenatal diagnosis for the fetus was undertaken. Eventually, the couple gave birth to an unaffected baby. Furthermore, we conducted a long-term follow-up of the proband's clinical course. This report improves our understanding of the genetic and phenotypic characteristics of MLC and provides a new genetic basis for prenatal diagnosis and genetic counseling.
Hepatic vascular hamartoma in a cat: a case report with literature review
Authors: Andrada Negoescu, Claudiu Gal, Andra Bărbulescu, Elena Vulcan, Alice Rădulescu, Cornel Cătoi, Marian Taulescu
Journal: Front Vet Sci (2024)
Keywords: abdominal distention, cat, hepatic cysts, immunohistochemistry, vascular hamartoma
MeSH terms: Case Reports

Vascular hamartomas represent a focal proliferation of disorganized vascular tissue, which is usually present at birth. An 8-month-old Scottish fold female cat presented with abdominal distention, mild dyspnea, pale mucous membranes, and lethargy. Ultrasound examination revealed a hepatic mass resembling multiple cysts affecting the right medial lobe. Surgical excision was performed, and tissue samples were sent for histopathological evaluation. The mass was composed of multiple, dilated, variably-sized well-differentiated arterioles and venules, consistent with vascular hamartoma. Immunohistochemical investigation of the cells lining the cystic structures showed positive immunolabeling for vimentin and negative immunolabeling for PanCK, supporting the histological diagnosis. Based on existing literature, this represents the first case of hepatic localization of vascular hamartoma in a cat. In addition, a comparative histological study between vascular hamartoma and biliary duct hamartoma and a review on hepatic vascular hamartomas in animals and hepatic cystic masses in cats was made.
Tophaceous Gout of the Middle Ear
Authors: Joren Waumans, Christian Desloovere, Johannes Devos
Journal: J Belg Soc Radiol (2024)
Keywords: gout, conductive hearing loss, ear ossicles, middle ear, tomography
MeSH terms: Case Reports

Tophaceous gout can rarely present in the middle ear as a mass-like lesion, causing conductive hearing loss. Noncontrast high-resolution computed tomography (HRCT) of the temporal bone plays a significant role in the diagnosis. Awareness of this condition among radiologists is important since it presents a distinctive appearance on HRCT. We present a case of tophaceous gout of the middle ear diagnosed with photon-counting computed tomography (PCCT). Teaching point: The presence of a partially calcified mass with a semolina-like appearance within the middle ear is highly suggestive of tophaceous gout, even in the presence of normal serum uric acid levels.
Microtrabecular Fracture with Intramedullary Fat Globules
Authors: Jeroen Bauwens, Koenraad Nieboer
Journal: J Belg Soc Radiol (2023)
Keywords: mri, bone marrow edema, dual-energy ct, fat coalescence, intramedullary fat globules, microtrabecular fracture
MeSH terms: Case Reports

Teaching Point: In rare cases, trauma may result in intramedullary fat globules which have a characteristic aspect both on MRI and dual-energy CT.
Pseudo Primary Aldosteronism as Initial Presentation of Ectopic ACTH Syndrome in Metastatic Small Cell Lung Cancer
Authors: Jonathan Shakesprere, Reima El Naili, Mehjabeen Sadiq, Adnan Haider
Journal: JCEM Case Rep (2022)
Keywords: dexamethasone suppression test, hyperaldosteronism, paraneoplastic acth secretion
MeSH terms: Case Reports

Ectopic adrenocorticotropic hormone (ACTH)-secreting syndrome (EAS) is a rare but often aggressive paraneoplastic syndrome. Patients with EAS typically present with high ACTH levels and rapid clinical progression in the setting of acute cortisol elevation, which can delay diagnosis due to a lack of typical Cushingoid features. High levels of ACTH have also been shown to stimulate the adrenal zona glomerulosa to oversecrete aldosterone. We present the case of a 58-year-old male individual presenting with new-onset hypertension and severe metabolic alkalosis with spontaneous hypokalemia, in the setting of elevated aldosterone and low renin levels, suggestive of primary aldosteronism. Subsequent biochemical testing, imaging, and pathology, however, revealed suppression of aldosterone with evidence of hypercortisolism in the setting of metastatic small cell lung cancer. This was, therefore, suggestive of pseudo primary aldosteronism in the setting of a paraneoplastic ectopic ACTH-producing syndrome. This case highlights that hypercortisolism, in the setting of EAS, can initially present with a clinical picture suggestive of hyperaldosteronism. The use of a dexamethasone suppression test can allow the clinician to differentiate between idiopathic bilateral adrenal hyperplasia and ectopic ACTH syndrome.
Case Report: Activated B-cell-diffuse large B-cell lymphoma
Authors: Padmashri Kalmegh, Alka Hande, Madhuri Gawande, Swati Patil, Archana Sonone, Aayushi Pakhale
Journal: F1000Res (2024)
Keywords: diffuse large b cell lymphoma, immunohistochemistry, lymphocytes, non-hodgkin's lymphoma, oral cavity
MeSH terms: Case Reports

Lymphomas of the oral and oropharyngeal regions are rather uncommon, and diagnosis can be challenging and confusing due to the multiple histological subgroups. Lymphomas are the third most common type of tumor in the head and neck region and are brought on by the lymphoreticular system. The two forms of lymphoma are Hodgkin's lymphoma and non-Hodgkin's lymphoma (NHL). Herein, we present a case report of oropharyngeal lymphoma. The female patient reported with a complaint of swelling over the palatal region for two to three months. An ulceroproliferative lesion was evident over the posterior palatal region. We diagnosed reactive lymphadenitis based on an incisional biopsy. To confirm the diagnosis and rule out other conditions, a punch biopsy followed by immunohistochemical studies were done. Features suggestive of activated B-cell-diffuse large B-cell lymphoma were confirmed. Among malignant lymphomas, diffuse large B-cell lymphoma is the most prevalent variety. Much progress has been made in recent years in understanding the molecular pathophysiology of this disease. In this case report, we aim to correlate the clinical presentation, histology features and immunohistochemical significance in order to promote early discovery, diagnosis, and treatment for a better prognosis of the patient.
Efficacy of durvalumab plus chemotherapy in small-cell lung cancer with Lambert-Eaton myasthenic syndrome
Authors: Naoya Ishibashi, Toshiharu Tabata, Ryo Nonomura, Yutaka Oshima, Takanobu Sasaki, Hideki Mitomo, Takafumi Sugawara, Motoyasu Sagawa
Journal: Respir Med Case Rep (2023)
Keywords: durvalumab, lambert-eaton myasthenic syndrome (lems), small-cell lung cancer (sclc)
MeSH terms: Case Reports

Lambert-Eaton myasthenic syndrome (LEMS) is a rare disease but is often associated with small-cell lung cancer (SCLC). We discuss the case of a 65-year-old man diagnosed with SCLC-LEMS and treated with carboplatin, etoposide, and durvalumab. Lower extremity weakness and high anti-P/Q voltage-gated calcium channel (VGCC) antibody levels were diagnostic and helpful. The patient showed a reduction in neurological symptoms with treatment for SCLC, including an immune checkpoint inhibitor (ICI), without standard treatment for LEMS. This treatment may be a treatment option, although the recurrence of LEMS as an immune-related adverse events (irAEs) should be noted.
Anlotinib combined with radiotherapy and chemotherapy for recurrent pelvic osteosarcoma treatment: a case report and literature review
Authors: Qian Chen, Kai Zheng, Ming Xu, Ning Yan, Gong Hai, Xiuchun Yu
Journal: Front Oncol (2023)
Keywords: adjuvant chemotherapy, anlotinib, case report, radiotherapy, recurrent pelvis osteosarcoma
MeSH terms: Case Reports

At present, the treatment of recurrent pelvic osteosarcoma is too simple, and most of the patients are treated with chemotherapy, radiotherapy, and/or combined surgery. Here, we report a 29-year-old man diagnosed with local recurrent pelvic osteosarcoma. Imaging showed that the tumor had obvious enhancement and abundant blood vessels. There was no indication of surgery. After the patient's consent was obtained, we used anlotinib as a sequential treatment to chemotherapy. During the first course of adjuvant chemotherapy, we treated the patient with intensity-modulated radiotherapy (IMRT) with a total dose of 60 Gy equivalents. No disease recurrence was reported at 25 months after multimodal combination therapy.
A long-term complication of clitoral cyst after female genital mutilation
Authors: Özgür Şahin, Erol Nadi Varlı, Abdirahman Omar Moallim, Harun Egemen Tolunay
Journal: Pan Afr Med J (2023)
Keywords: female genital mutilation, awareness of female genital mutilation, clitoral cyst, long-term complications
MeSH terms: Circumcision, Female / adverse effects, Epidermal Cyst / surgery, Plastic Surgery Procedures, Case Reports, Clitoris / pathology, Clitoris / surgery, Female, Humans, Somalia

Female genital mutilation (FGM) was seen in 30 countries, especially in Africa and also in Asia and the Middle East. According to WHO data, Somalia is where FGM is performed most frequently. Our study aimed to evaluate the recordings of patients with FGM who were diagnosed with a traumatic clitoral cyst. We identified the clitoral cyst cases between February 2015 and August 2020. We collected clinical, surgical, sociodemographic, and histopathological details such as age, marital status, patient resume, age at which FGM was performed, complaints, size of the cyst consultation reasons, FGM procedural long-term complications, sexual function, husband polygamic relationship status, and histological findings. A total of 21 patients diagnosed with clitoral cysts were included in the study. The technique was easily applied in every patient, and the cysts were removed intact, except in 2 patients. There were no intraoperative complications; only minimal bleeding was seen. Except for one patient, all had unilocular cysts, and the final pathological examination revealed an epidermal inclusion cyst. We observed a neuroma developed due to genital trauma due to FGM in one of our patients. Female circumcision and its consequences are not familiar to many healthcare professionals in the developed world. We want to increase awareness of female circumcision and its long-term complication of clitoral cysts among healthcare professionals worldwide.
Transitional Metaplasia of Renal Collecting Ducts in Vesicoureteral Reflux and Chronic Pyelonephritis: An Immunohistochemical Study of a Case and Review of the Literature
Authors: Naser Tayyebi Meibodi, Salman Soltani, Farnaz Torabian
Journal: Iran J Pathol (2023)
Keywords: chronic renal failure, kidney collectingducts, metaplasia, vesicoureteral reflux
MeSH terms: Case Reports

The capability of the urinary tract to undergo metaplastic changes such as squamous, intestinal, glandular, mucinous, or ciliated epithelium in renal pelvis has been previously reported, which hypothetically is due to the mechanical irritation of the transitional epithelium. However, transitional metaplasia is a rare presentation in the collecting ducts. The aim of this paper was to report this type of extremely rare metaplasia and to inform pathologists that they may encounter this kind of metaplasia. A 25-year-old man, a known case of vesicoureteral reflux (VUR), referred to the Imam Reza Hospital; affiliated to the Mashhad University of Medical Sciences, for bilateral nephrectomy. Gross evaluation of bilateral nephrectomy specimens showed atrophic kidneys and dilated pelvicalyceal systems. The light microscopic evaluation showed transitional metaplasia in the background of chronic pyelonephritis, confirmed by GATA3 nuclear immunohistochemical stain. In this study, we presented a rare case of a renal collecting duct with transitional epithelial lining replacing the normal epithelium as a metaplastic change, with the hypothesis that previous medical history including VUR, or hemodialysis could be the trigger for the metaplastic change, which should be confirmed by further studies.
Case Report: Atypical visual presentation caused by a large convexity meningioma-a nerve stretching and stalk indentation effect
Authors: Chia-Hsun Chiu, Ko-Ting Chen
Journal: Front Surg (2024)
Keywords: meningioma, optic nerve injury, optic nerve swelling, pituitary stalk, visual field defect
MeSH terms: Case Reports

Visual field defects are commonly present in patients with brain tumors, particularly due to direct compression on the optic apparatus. However, there are instances where brain tumors, despite not directly compressing the optic pathway, can still cause visual symptoms, albeit rarely reported but not uncommonly observed. These mechanisms are thought to be associated with increased intracranial pressure (IICP). We report a case of a 32-year-old man who presented with right blurred vision and was diagnosed with a right convexity meningioma. Upon reviewing his magnetic resonance images, we hypothesized that the indentation of the pituitary stalk on the optic chiasm and the stretching of the optic nerve, combined with a focal effect of IICP, could be responsible for his atypical visual field defect.
Surgical resection due to poor outcome of the immunotherapy of a relapsed mediastinal liposarcoma: a case report
Authors: Ming-Ji Wang, Shu-Quan Xu, Lei-Lei Wu, Zhi-Xin Li, Dong Xie
Journal: Future Sci OA (2024)
Keywords: liposarcoma, palbociclib, pembrolizumab, second surgery
MeSH terms: Case Reports

The feasibility of surgery after immunotherapy for mediastinal liposarcoma remains uncertain. Besides, the case of immunotherapy for liposarcoma is still lacking. We report a case of recurrence after resection of a left mediastinal liposarcoma. After recurrence, one course of pembrolizumab plus anlotinib hydrochloride showed no tumor shrinkage, and genetic testing showed CDK4 amplification and PD-L1 TPS <1%; therefore, the plan was changed to one course of pembrolizumab plus palbociclib, but the tumor still did not shrink. Thus, second tumor resection was performed. In addition, the postoperative pathology was still well-differentiated liposarcoma. The significance of immunotherapy in liposarcoma still needs to be further explored. In the absence of surgical contraindications, secondary surgery might be feasible.
Physical activity and sedentary behaviour of male adolescents in Indonesia during the COVID-19 pandemic: a mixed-method case study using accelerometers, automated wearable cameras, diaries, and interviews
Authors: Fitria Dwi Andriyani, Katrien De Cocker, Aprida Agung Priambadha, Stuart J H Biddle
Journal: J Act Sedentary Sleep Behav (2023)
Keywords: accelerometers, automated wearable camera, lmics, male adolescents, screen time, youth

Background:
Previous physical activity and sedentary behaviour studies during the pandemic have largely utilized online surveys, with known limitations including recall bias. Employing both device-based and self-reported measurements may provide a more comprehensive picture of both behaviours. Physical activity and sedentary behaviour research in adolescents is still limited in low- and middle-income countries (LMICs), including Indonesia. Male adolescents had been identified as more active than females but have had a greater decrease in physical activity during the pandemic. The present study aimed to investigate the quantity, temporal patterns, contexts, and biopsychosocial factors of physical activity and sedentary behaviour during the COVID-19 pandemic in a small group of male Indonesian adolescents.
Methods:
Male adolescents (n = 5; 14-15 years old) from Yogyakarta wore accelerometers and automated wearable cameras for four days, and completed diaries and interviews in November 2020.
Results:
Participants' activity was dominated by light intensity (67% of all physical activity). Sedentary behaviour was high; accelerometer, school days: 456 ± 145 min (78 ± 10% of wear time), non-school days: 344 ± 160 min (79 ± 17% of wear time); camera, school days: 176 ± 101 min (81 ± 46% of wear time), non-school days: 210 ± 165 min (86 ± 67% of wear time). Sedentary behaviour was mainly done during school hours on school days and from late afternoon to evening on non-school days. Screen time was largely for leisure purposes and action games were most favoured. Smartphones were the most used device, mainly used in a solitary context in the bedroom. Non-screen-based sedentary behaviour was consistently low. Interviews suggested that during the pandemic, supporting factors for physical activity are: self-determination, enjoyment, parental support, and physical education; meanwhile, factors influencing screen time are: educational demands, device and internet availability, screen time opportunities, parental control, social facilitators, phone notifications, and emotional state.
Conclusions:
Most participants were not able to stay active during the pandemic. Using digital platforms may be beneficial to shift some screen-based sedentary behaviour to 'screen-based' or 'screen-prompted' physical activity.
Supplementary information:
The online version contains supplementary material available at 10.1186/s44167-022-00014-0.
Large and bleeding gastroduodenal artery aneurysm: Challenging diagnosis and treatment. A case report
Authors: Marco Yusef, Sara Claudia Barone, Francesco D'Angelo, Paolo Aurello, Gianfranco Silecchia, Niccolò Petrucciani
Journal: Int J Surg Case Rep (2024)
Keywords: angiography, emergency, endovascular treatment, gastroduodenal artery, gastrointestinal endoscopy
MeSH terms: Case Reports

Introduction:
Visceral artery aneurysms (VAA), including gastroduodenal artery aneurysms (GAA), are rare pathologies that can be challenging to diagnose due to their often-asymptomatic nature. VAA are usually correlated to atherosclerosis, fibro dysplasia, or hemodynamics changes, while pseudo aneurysms are mostly correlated to infection, inflammation, traumas, or iatrogenic lesions.
Presentation of case:
We report the case of an 82-years-old female presenting with abdominal pain and hematemesis. Upper gastrointestinal endoscopy retrieved a large duodenal mass and subsequent CT scans identified a large GAA with contrast extravasation. Endovascular procedure included selective arteriography, microcatheterization, and embolization.
Discussion:
VAA are mostly located in the splenic and hepatic artery. Symptoms of VAA are related to pressure on neighboring organs. VAA rupture is associated with a high mortality risk (over 76 %) and presents with symptoms like acute abdominal pain, hematemesis, and hemodynamic shock. Diagnosis is often made through CT scans and angiography. Treatment options for VAAs and GAAs include both surgical and endovascular methods. Endovascular treatment is preferred, with a success rate of 89 %-98 %.
Conclusion:
This case provides an example of challenging diagnosis and treatment of a large and bleeding GAA.
Avulsion fracture of the anterior superior iliac crest following autograft for anterior lumbar fusion: case report and literature review
Authors: Chao-Yuan Ge, Liang Dong, Zheng-Wei Xu, Wen-Long Yang, Li-Xiong Qian, Xiao-Wei Yang, Ding-Jun Hao
Journal: Front Surg (2024)
Keywords: avulsion fracture, case report, donor-site complications, iliac crest, spinal fusion
MeSH terms: Case Reports

Avulsion fracture of the anterior superior iliac crest (ASIC) following autogenous bone grafting for anterior lumbar fusion (ALF) is an extremely rare complication. We describe a very rare case of avulsion fracture of the ASIC following autograft for ALF in a revision surgery for treating lumbar tuberculosis. A 68-year-old woman with lumbar tuberculosis underwent posterior debridement and posterior iliac crest bone graft fusion; however, her lumbar tuberculosis recurred 9 months after surgery. She then underwent a lumbar revision surgery, including removal of the posterior instrumentation and debridement, followed by anterior L2 corpectomy, debridement, anterior left iliac crest bone graft fusion, and internal fixation. When walking for the first time on postoperative day 3, she experienced a sharp, sudden-onset pain in the anterior iliac crest harvest area. X-ray revealed an avulsion fracture of the ASIC. Considering her failure to respond to conservative treatment for one week and large displacement of the fracture ends, an open reduction and internal fixation surgery was scheduled. Her pain symptoms were significantly relieved after the operation. Although rare, fracture of the ASIC following autograft for ALF should not be ignored. Fracture of the ASIC is usually treated conservatively. Additional surgical treatment is required only when intractable pain fails to respond to conservative treatment or when there is a large displacement of fracture ends that are not expected to heal spontaneously.