OpenMed/multicare-articles huggingface dataset:
Misdiagnosis of Paget's Disease of Bone in a Congenital Generalized Lipodystrophy Patient: Case Report
Authors: Erika Bastos Lima Freire, Mayara Ponte Madeira, Grayce Ellen da Cruz Paiva Lima, Virginia Oliveira Fernandes, Lindenberg Barbosa Aguiar, João Paulo Uchoa Fontenele, Ana Paula Dias Rangel Montenegro, Thyciara Fontenele Marques, Renan Galvão Ozório, Catarina Brasil d'Alva, Renan Magalhães Montenegro Jr
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: berardinelli-seip syndrome, bone, lipodystrophy, paget’s disease of bone, case report, congenital generalized lipodystrophy patient
MeSH terms: Lipodystrophy, Congenital Generalized / diagnosis, Osteitis Deformans / diagnosis, Case Reports, Adult, Diagnosis, Differential, Diagnostic Errors, Humans, Male

Paget's disease of bone (PDB) is a common skeleton disorder in which the diagnosis is suggested by radiological analyses. Congenital generalized lipodystrophy (CGL) is a rare, but a radiologic differential diagnosis of Paget's disease. Patients present total or almost total lack of subcutaneous adipose tissue, leptin deficiency, and precocious ectopic lipid accumulation, which lead to intense insulin resistance, poorly controlled diabetes mellitus, and hypertriglyceridemia. CGL subtypes 1 and 2 present sclerosis and osteolytic lesions that can resemble "pagetic" lesions. The clinical correlation is, therefore, essential. We report a CGL patient with bone lesions in which the radiographic findings led to a misdiagnosis of PDB. This case report brings awareness to CGL, a life-threating condition. Its early recognition is essential to avoid clinical complications and premature death. Therefore, it is important to consider CGL as PDB's differential diagnosis, especially in countries with high prevalence of this rare disease, such as Brazil.
Avoiding the Trap of Misdiagnosis: Valuable Teaching Points Derived from a Case of Longstanding Popliteal Artery Entrapment Syndrome
Authors: Heitham Wady, Zain Badar, Zerwa Farooq, Palma Shaw, Katsuhiro Kobayashi
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Popliteal artery entrapment syndrome (PAES), a condition predominantly affecting young individuals, is a rare clinical entity that can result in significant morbidity. The presence of lower limb pain and claudication in young, physically active individuals should prompt consideration for PAES. Early diagnosis and management is crucial to prevent long-term complications; however, diagnosis is fraught with challenges due to the rarity of the disease and its similar clinical presentation with more common conditions. We present a case of a young female with PAES who was misdiagnosed and underwent a tarsal tunnel release for suspected tarsal tunnel syndrome and subsequent fasciotomies for presumed chronic exertional compartment syndrome (CECS) without any relief. We outline the insidious undiagnosed course of her condition over a period of 12 years, discuss teaching points of how to recognize key differences of PAES and associated conditions, and provide recommendations for how to make the right diagnosis.
Case Report: A Virilizing Adrenal Oncocytoma
Authors: Efstathios Kotidis, Stefanos Bitsianis, Konstantinos Galanos-Demiris, Panagiotis Christidis, Ioannis Mantzoros, Orestis Ioannidis, Vasilis Foutsitzis, Manousos George Pramateftakis, Stamatios Aggelopoulos
Journal: Front Surg (2021)
Keywords: adrenal mass, borderline, masculinization, oncocytoma, testosterone, virilization
MeSH terms: Case Reports

A 64-year-old female was admitted to our clinic with a 9-cm-sized adrenal mass. The patient's main symptom was hirsutism, which included thinning scalp hair and excessive hair growth over her torso and arms. Upon investigation, elevated values of testosterone, androsterone D4, and DHEA-S were found. Contrast-enhanced abdominal CT and MRI scans revealed a heterogenous large mass (diameter 9 × 8.5 cm) with focal calcifications, necrotic areas, and a clear distinction from the adjacent structures. The patient underwent a right adrenalectomy. The histological examination of the tumor revealed a borderline adrenocortical oncocytoma. The patient had an uncomplicated postoperative course and was discharged on postoperative day 8. Similar cases reported in the literature are also being reviewed in this case report.
Cities and floods: A pragmatic insight into the determinants of households' coping strategies to floods in informal Accra, Ghana
Authors: Kwaku Owusu Twum, Mohammed Abubakari
Journal: Jamba (2019)

Floods are common events that confront many cities in the developing world. Ghana, a developing country, is persistently challenged with flood events, especially in its major cities. In informal Accra, for instance, despite the severity of flood effects and its associated threats, poor informal residents continue to stay. As a result, these poor urban dwellers have developed local coping strategies made up of mitigation and reactive measures to manage and adapt to flood hazards through their preceding experiences. In this article, we have embraced the convergent parallel mixed method of case study design to echo and explore (1) the major effects of preceding floods on informal households, (2) the local informal coping strategies adopted by households to mitigate and respond to flooding and its effects in the future and (3) the determinants of the coping strategies of households that underpin their continual stay in spite of flood risks in Alajo, an urbanised suburb in Accra metropolis noted as one of the slum communities that easily flood in Ghana. Our analysis has used a mix of qualitative and quantitative data collected from both secondary and primary sources as well as a conceptualised model known as disaster resilience of place. The key findings (Alajo has low degree of adaptive resilience to major floods which might occur in the future because of the lack of social learning in the coping strategies developed through several years of lessons learnt from perennial floods) and proposals (local coordination in implementing the coping strategies to flooding, state support of the local strategies and adoption of rainwater harvesting) also make contributions to managing urban floods in informal settlements in the developing world.
Congenital left atrial appendage aneurysm: A rare case report and literature review
Authors: Bin Wang, He Li, Li Zhang, Lin He, Jing Zhang, Cong Liu, Jing Wang, Qing Lv, Xiaoke Shang, Jinping Liu, Mingxing Xie
Journal: Medicine (Baltimore) (2018)
MeSH terms: Atrial Appendage / diagnostic imaging, Atrial Appendage / pathology, Atrial Appendage / surgery, Heart Aneurysm / congenital, Case Reports, Review, Heart Aneurysm / diagnostic imaging, Heart Aneurysm / pathology, Heart Aneurysm / surgery, Humans, Male, Middle Aged

Rationale:
Left atrial appendage aneurysms (LAAA) are rare. Patients with LAAA are often diagnosed incidentally or after cardiac tachyarrhythmia or systemic thromboembolism happen. Early diagnosis and surgical resection is of utmost importance to prevent hazardous adverse events.
Patient concerns:
We present a case of 46-year-old man with congenital LAAA. The individual in this manuscript has given written informed consent to publish these case details.
Diagnoses:
Imaging studies, such as echocardiography, cardiovascular computed tomography (CT) and magnetic resonance imaging (MRI), demonstrated the large cavity arising from the left atrial appendage. The diagnosis of LAAA was confirmed.
Interventions:
The patient underwent an aneurysmectomy without any complications.
Outcomes:
TTE confirmed the disappearance of the LAAA from the left parasternal short-axis view of the aortic root postoperatively. The patient remained asymptomatic without any adverse events at his 3-month follow-up visits.
Lessons:
The associated high risk of life-threatening complications and the relative ease of surgical removal suggest that prompt evaluation should be considered in patients with lesions adjacent to the left heart border.
Congenital laryngeal cyst: a rare cause of polyhydramnios
Authors: Hatice Tatar Aksoy, Nilda Süslü, Gamze Demirel, Istemihan Celik, Fuat Emre Canpolat, Omer Erdeve, Umut Akyol, Ugur Dilmen
Journal: APSP J Case Rep (2013)
Keywords: laryngeal cyst, polyhydramnios, respiratory distress
MeSH terms: Case Reports

Congenital laryngeal cyst is a rare cause of airway obstruction that may require urgent diagnosis and treatment. We report a case of a neonate having history of polyhydramnios and severe respiratory distress at birth. A laryngeal cyst detected during intubation. The outcome of laryngoscopic treatment of the cyst was favorable.
Compartment Syndrome of the Flexor Compartment of the Arm Secondary to Pectoralis Major Tendon Rupture
Authors: M A Tranovich, J B Stirton, J C Maier, M B Tanios, J E Lea, N A Ebraheim, J D Miller
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Case. Compartment syndrome following muscle rupture is a rare entity with few mentions in the literature. We present a case of pectoralis major rupture in a 38-year-old male that evolved into compartment syndrome of the anterior compartment of the arm. Rupture of the pectoralis is uncommon and most often occurs during weight lifting. Compartment syndrome secondary to this injury is extremely uncommon, with only one reported case in the pectoralis major itself and several cases of biceps compartment syndrome. Due to the potentially devastating consequences of a missed compartment syndrome, it is imperative that physicians maintain a high level of suspicion in patients with these unusual injuries presenting with severe swelling and pain.
Restorative Rehabilitation of a Patient with Dental Erosion
Authors: Mohammed Thamer AlShahrani, Satheesh B Haralur, Mohammed Alqarni
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

Dental erosion is the chemical dissolution of the tooth structure. Factors like eating disorders and gastrointestinal diseases are recognized as intrinsic factors for dental erosion. Advanced stages of dental erosion extensively damage the tooth morphology, consequently affecting both esthetics and functions. Reports indicate the growing prevalence of erosion, and hence knowledge of restorative rehabilitation of tooth erosion is an integral part of the contemporary dental practice. This clinical report describes an adult patient with gastroesophageal reflux induced dental erosion involving the palatal surface of the maxillary anterior teeth. The extensive involvement of the palatal surfaces compromised the esthetics, incisal guidance, and functional occlusal efficiency. Indirect all-ceramic restorations were utilized to restore the esthetics and occlusal reconstruction. In conclusion, patients affected by severe dental erosion require prosthetic rehabilitation besides the management of the associated medical condition.
Safety and Efficacy of Pamidronate in Neonatal Hypercalcemia Caused by Subcutaneous Fat Necrosis: A Case Report
Authors: Stefano Martinelli, Marco Pitea, Italo Francesco Gatelli, Tara Raouf, Graziano Barera, Ottavio Vitelli
Journal: Front Pediatr (2022)
Keywords: biphosphonate, hypercalcemia, newborn, pamidronate, subcutaneous fat necrosis
MeSH terms: Case Reports

Subcutaneous fat necrosis of the newborn (SCFN) is a panniculitis that develops in fatty areas after fetal or perinatal distress. Prognosis is generally good with complete regression, but it can be complicated by metabolic abnormalities like hypoglycemia, hypertriglyceridemia, thrombocytopenia, and also potentially life-threatening hypercalcemia. Treatments have included hydration, furosemide and corticosteroids. These treatments can be prolonged for several days and can have complications such as nephrocalcinosis. Use of bisphosphonates has been rarely reported in newborn. We describe a case of severe hypercalcemia complicating subcutaneous fat necrosis in a newborn successfully treated by a single dose of pamidronate after having obtained partial response by therapy with hyperhydration, furosemide and hydrocortisone. When high levels of calcium do not respond to first line therapy with hyperhydration and diuretic therapy, bisphosphonates treatment could be considered a valid choice to treat hypercalcemia and to avoid corticosteroids. Further studies are needed to understand if pamidronate and other bisphosphonates can be considered the first choice in hypercalcemia due to SCFN.
"Bones in the Medulla Oblongata?"-A Case Report of Intracranial Teratoma and Review of the Literature
Authors: Xu Zhang, Hongxiang Wang, Fan Hong, Tao Xu, Juxiang Chen
Journal: Front Pediatr (2021)
Keywords: craniotomy, medulla oblongata, neurosurgery, pediatric, teratoma
MeSH terms: Case Reports

Teratoma in the medulla oblongata is extremely infrequent and has been rarely reported. Severe and sustained brain stem compression resulting from these granitic tumors may cause potentially fatal impairment. Here, we reported a novel case of teratoma that occurred in the medulla oblongata. This 15 year-old boy suffered from a progressive gait disturbance and weakness of limbs for nearly 13 years. Magnetic Resonance Imaging (MRI) revealed an unusual mixed mass in the medulla oblongata and C1-2 spine, which was confirmed as mature teratoma by histopathological examination. Then, surgical resection was performed, followed by postoperative continuous rehabilitation. After a period of rehabilitation, this patient is currently able to mobilize with sticks. No signs of local recurrence occurred. Conclusively, surgical removal is still the preferred treatment for teratoma.
Budd-chiari syndrome and renal arterial neurysms due to Behcet disease: a rare association
Authors: Abdussamet Batur, Meltem Dorum, Hasan Ali Yüksekkaya, Osman Koc
Journal: Pan Afr Med J (2015)
Keywords: behcet´s disease, budd-chiari syndrome, aneurysm rupture, renal arterial microaneurysms
MeSH terms: Aneurysm, Ruptured / etiology, Behcet Syndrome / complications, Budd-Chiari Syndrome / etiology, Renal Artery / pathology, Case Reports, Adolescent, Aneurysm, Ruptured / therapy, Angiography, Behcet Syndrome / physiopathology, Embolization, Therapeutic / methods, Humans, Male

Behcet's disease is a multisystemic vasculitis of unknown etiology with a chronic relapsing course. Vasculitis in Behcet's disease with predominant vascular involvement is the only vasculitis that affects both arteries and veins of any size. Involvement of the renal artery and inferior vena cava is rare among the arteries and veins, respectively. When disease affect the veins, it is in the form of thrombosis. Arterial complications include aneurysms, stenosis and occlusions. Both rupture of arterial aneurysm and occlusion of suprahepatic veins, causing Budd-Chiari syndrome, are associated with a high mortality rate. Vascular involvement is more common in male patients than in female patients. Men and patients with a younger age of onset present with a more severe prognosis. In this case report, we describe a very rare cause of intrarenal arterial aneurysm's rupture with previous Budd-Chiari syndrome due to Behcet's disease and successful angiographic embolization of actively bleeding aneurysm.
Unravelling how and why the Antiretroviral Adherence Club Intervention works (or not) in a public health facility: A realist explanatory theory-building case study
Authors: Ferdinand C Mukumbang, Brian van Wyk, Sara Van Belle, Bruno Marchal
Journal: PLoS One (2019)
MeSH terms: Antiretroviral Therapy, Highly Active / ethics, Medication Adherence, Models, Theoretical, Public Health / ethics, Research Support, Non-U.S. Gov't, Cooperative Behavior, Humans, Kaplan-Meier Estimate, Motivation, Patient Care, Patient Satisfaction, Probability, Treatment Outcome

Background:
Although empirical evidence suggests that the adherence club model is more effective in retaining people living with HIV in antiretroviral treatment care and sustaining medication adherence compared to standard clinic care, it is poorly understood exactly how and why this works. In this paper, we examined and made explicit how, why and for whom the adherence club model works at a public health facility in South Africa.
Methods:
We applied an explanatory theory-building case study approach to examine the validity of an initial programme theory developed a priori. We collected data using a retrospective cohort quantitative design to describe the suppressive adherence and retention in care behaviours of patients on ART using Kaplan-Meier methods. In conjunction, we employed an explanatory qualitative study design using non-participant observations and realist interviews to gain insights into the important mechanisms activated by the adherence club intervention and the relevant contextual conditions that trigger the different mechanisms to cause the observed behaviours. We applied the retroduction logic to configure the intervention-context-actor-mechanism-outcome map to formulate generative theories.
Results:
A modified programme theory involving targeted care for clinically stable adult patients (18 years+) receiving antiretroviral therapy was obtained. Targeted care involved receiving quick, uninterrupted supply of antiretroviral medication (with reduced clinic visit frequencies), health talks and counselling, immediate access to a clinician when required and guided by club rules and regulations within the context of adequate resources, and convenient (size and position) space and proper preparation by the club team. When grouped for targeted care, patients feel nudged, their self-efficacy is improved and they become motivated to adhere to their medication and remain in continuous care.
Conclusion:
This finding has implications for understanding how, why and under what health system conditions the adherence club intervention works to improve its rollout in other contexts.
Aggressive angiomyxoma of the spermatic cord: A rare entity
Authors: Ajay Malik, K J Singh, Anurag Mehta
Journal: Indian J Urol (2009)
Keywords: angiomyxoma, immunohistochemistry and spermatic cord
MeSH terms: Case Reports

Aggressive angiomyxoma (AA) is an uncommon tumor occurring in females and is rarely reported in males with propensity to recur. Due to its presence in perineal and genital region, it has to be differentiated from other myxoid neoplasms. The tumor expresses estrogen and progesterone receptors, which may have a role to play in tumor therapy. Wide local excision remains the mainstay of the treatment. We present a case of AA excised from left spermatic cord.
Patients with Acromegaly Presenting with Colon Cancer: A Case Series
Authors: Murray B Gordon, Samer Nakhle, William H Ludlam
Journal: Case Rep Endocrinol (2016)

Introduction. Frequent colonoscopy screenings are critical for early diagnosis of colon cancer in patients with acromegaly. Case Presentations. We performed a retrospective analysis of the incidental diagnoses of colon cancer from the ACCESS trial (ClinicalTrials.gov identifier: NCT01995734). Colon cancer was identified in 2 patients (4.5%). Case 1 patient was a 36-year-old male with acromegaly who underwent transsphenoidal surgery to remove the pituitary adenoma. After surgery, the patient underwent routine colonoscopy screening, which revealed a 40 mm tubular adenoma in the descending colon. A T1N1a carcinoma was surgically removed, and 1 of 22 lymph nodes was positive for metastatic disease, leading to a diagnosis of stage 3 colon cancer. Case 2 patient was a 50-year-old male with acromegaly who underwent transsphenoidal surgery to remove a 2 cm pituitary adenoma. The patient reported severe cramping and lower abdominal pain, and an invasive 8.1 cm3 grade 2 adenocarcinoma with signet rings was identified in the ascending colon and removed. Of the 37 lymph nodes, 34 were positive for the presence of tumor cells, and stage 3c colon cancer was confirmed. Conclusion. Current guidelines for colonoscopy screening at the time of diagnosis of acromegaly and at appropriate follow-up intervals should be followed.
Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease
Authors: Christina Taylan, Andrea Wenzel, Florian Erger, Heike Göbel, Lutz T Weber, Bodo B Beck
Journal: Front Pediatr (2020)
Keywords: kidney transplantation, lipopolysaccharide-responsive beige-like anchor protein (lrba), renal failure, tubulointerstitial kidney disease, whole-exome sequencing
MeSH terms: Case Reports

Background: Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) deficiency is characterized by autoimmunity, chronic diarrhea, and immunodeficiency. Minor renal manifestations have been found in a few patients, but kidney disease has not been systematically studied and may remain underdiagnosed in this highly variable entity. Results: Our patient initially presented with pancytopenia, enteropathy, hypogammaglobulinemia, and failure to thrive at the age of 15 months. Chronic kidney disease was diagnosed at 6 years. A renal biopsy taken at 11 years of age showed interstitial nephritis. The patient progressed rapidly to end-stage renal disease (ESRD) and underwent kidney transplantation at the age of 12 years. Bronchiolitis obliterans, post-transplant lymphoproliferative disease (PTLD), and chronic rejection complicated the post-transplant management. Graft loss required reinstitution of hemodialysis within 3 years. After negative results of different targeted sequencing strategies, exome sequencing identified a homozygous nonsense mutation (p.Q1010*) in the LRBA gene more than 21 years after the patient's initial presentation. Conclusions: We report here the development of ESRD and long-term follow-up in a patient with LRBA deficiency. A molecular diagnosis in rare (kidney) disease like LRBA deficiency bears many advantages over a descriptive diagnosis. A precise diagnosis may result in improved (symptomatic) treatment and allows differentiating treatment- and procedure-related complications from manifestations of the primary disease.
Uterine cervical Müllerian adenosarcoma possibly arising from ovarian cystadenofibroma: A case report and review of the literature
Authors: Xinxin Zhu, Chao Peng, Yan Huang, Yingfang Zhou
Journal: Front Oncol (2023)
Keywords: müllerian adenosarcoma, clinicopathological characteristics, cystadenofibroma, differential diagnosis, prognosis
MeSH terms: Case Reports

Uterine cervical Müllerian adenosarcoma (MA), a rare malignant tumor of the female reproductive organs, is composed of a benign epithelium and a low-grade malignant stromal component. Because few studies have investigated the clinical management of MA, misdiagnosis often occur. Therefore, we proposed an optimal course of clinical management for patients with MA. MA is possibly a malignant transformation of the cystadenofibroma. In this study, we present a case of a 46-year-old woman who presented with symptoms of MA of the uterine cervix, such as metrorrhagia and a cyst in the cervical canals, after transvaginal excision of the left ovarian mucinous cystadenofibroma.
A Case of Thoracic Spondylosis Deformans and Multilevel Instrumented Spinal Fusion in an 84-Year-Old Male
Authors: Amy H Amabile, J Raymond Shea, Vishal Desai, Lisa T Hoglund, Jamie N Elcock, Anthony Lombardo, Matthew C Schiffino
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Spondylosis deformans is a type of spinal claw osteophytosis which can be found on the anterolateral vertebral bodies of any region, and which consists of protrusions of intervertebral disc tissue covered by a bony shell. We report here a case of thoracic spondylosis deformans and multilevel instrumented fusion found during routine dissection of a cadaver. Theories of the etiology of this condition are reviewed in general, and with respect to this specific case and the potential interaction of the presenting comorbidities. The clinical implications of these osteophytes, including musculoskeletal and visceral sequelae, are also discussed.