OpenMed/multicare-articles huggingface dataset:
Could Externalized St. Jude Medical Riata® Lead Be a Culture Medium of a Polymicrobial Endocarditis? A Clinical Case
Authors: Zefferino Palamà, Roberta Trotta, Cosimo Mandurino, Mariangela Pinto, Giovanni Luzzi, Stefano Favale
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

We report the case of a man affected by polymicrobial endocarditis developed on a St. Jude Medical Riata lead with a malfunction because of the outsourcing of conductors. The patient was treated with antibiotic targeted therapy and showed different bacteria at the blood cultures and then underwent transvenous leads extraction. Vegetations were highlighted on the caval, atrial, and ventricular tracts of the Riata lead, but the cultures were all negative. The externalization of Riata lead may cause the malfunction but it could also promote bacterial colonies and vegetations. In conclusion, looking for early signs of infection is mandatory during Riata leads follow-up checks.
Bartonella Endocarditis Mimicking Crescentic Glomerulonephritis with PR3-ANCA Positivity
Authors: Joseph Vercellone, Lisa Cohen, Saima Mansuri, Ping L Zhang, Paul S Kellerman
Journal: Case Rep Nephrol (2018)
MeSH terms: Case Reports

Bartonella henselae is a fastidious organism that causes cat scratch disease, commonly associated with fever and lymphadenopathy but, in rare instances, also results in culture-negative infectious endocarditis. We describe a patient who presented with flank pain, splenic infarct, and acute kidney injury with an active urinary sediment, initially suspicious for vasculitis, which was subsequently diagnosed as B. henselae endocarditis. Bartonella endocarditis may present with a crescentic glomerulonephritis (GN) and elevated PR3-ANCA antibody titers, mimicking ANCA-associated GN, with 54 cases reported in the literature. Unique to our case in this series is a positive PR3-ANCA antibody despite a negative IIF-ANCA. Thus, the presentation of Bartonella can mimic ANCA-associated GN, and renal biopsy showing immune complex deposition is critical for diagnosis and appropriate treatment.
The De Garengeot hernia: A case report of an unusual presentation of appendicitis
Authors: Davek Sharma, Jacob Katsnelson, Emmanuel Nwachuku, Jeffrey Kolff
Journal: Int J Surg Case Rep (2020)
Keywords: appendicitis, appendix, de garengeot, femoral, hernia, incarcerated
MeSH terms: Case Reports

Introduction:
A De Garengeot hernia is defined by a femoral hernia containing the appendix. Acute appendicitis within a femoral hernia is an extremely rare surgical presentation and occurs in only 0.08-0.013% of cases as cited by the literature.
Presentation of case:
A 64-year-old female presented to the Emergency Department of our hospital with acute onset of a right-sided groin bulge that occurred earlier that day after doing heavy lifting. Her workup revealed acute appendicitis contained within an incarcerated right femoral hernia. The patient underwent laparoscopic appendectomy with open femoral hernia repair. Intraoperatively, the appendiceal tip was incarcerated within the hernia sac. It was removed through the open inguinal incision after the appendix base was divided laparoscopically. Final pathology showed inflamed acute appendicitis without evidence for neoplasm.
Discussion:
Physicians should be aware of the rare entity of an unusual presentation of appendicitis as well as surgical options for treatment. The literature does not conclude upon a gold standard for method of approach.
Conclusion:
De Garengeot hernia remains a rare and unusual surgical presentation of femoral hernia, and complication of the case by incarceration leading to acute appendicitis provides a challenging surgical approach which should be individualized to each patient.
Case Report: Variable Pharmacokinetic Profile of Eculizumab in an aHUS Patient
Authors: Romy N Bouwmeester, Mendy Ter Avest, Kioa L Wijnsma, Caroline Duineveld, Rob Ter Heine, Elena B Volokhina, Lambertus P W J Van Den Heuvel, Jack F M Wetzels, Nicole C A J van de Kar
Journal: Front Immunol (2021)
Keywords: ahus, atypical hemolytic uremic syndrome, eculizumab, pharmacokinetic, proteinuria, therapeutic drug monitoring
MeSH terms: Antibodies, Monoclonal, Humanized / pharmacokinetics, Antibodies, Monoclonal, Humanized / therapeutic use, Atypical Hemolytic Uremic Syndrome / drug therapy, Case Reports, Adolescent, Atypical Hemolytic Uremic Syndrome / metabolism, Complement Factor H / metabolism, Humans, Male, Retrospective Studies, Antibodies, Monoclonal, Humanized, Complement Factor H, eculizumab

Background:
With the introduction of eculizumab, a C5-inhibitor, morbidity and mortality improved significantly for patients with atypical hemolytic uremic syndrome (aHUS). In view of the high costs, actual needs of the drug, and increasing evidence in literature, aHUS patients can be treated according to a restrictive eculizumab regimen. We retrospectively analyzed the pharmacokinetic and dynamic parameters of eculizumab in one patient in time, emphasizing various factors which could be taken into account during tapering of treatment.
Case presentation:
A nowadays 18-year-old male with a severe, frequently relapsing form of atypical HUS due to a hybrid CFH/CFHR1 gene in combination with the homozygous factor H haplotype, required chronic plasma therapy (PT), including periods with plasma infusion, from the age of onset at 5 months until initiation of eculizumab at the age of 11 years. A mild but stable chronic kidney disease (CKD) and 9 years of disease remission enabled prolongation of eculizumab interval. At the age of 15 years, a sudden yet multifactorial progression of chronic kidney disease (CKD) was observed, without any signs of disease recurrence. However, an acquired glomerulocystic disease, a reduced left kidney function, and abnormal abdominal venous system of unknown etiology were found. In addition, after an aHUS relapse, an unexpected increase in intra-patient variability of eculizumab concentrations was seen. Retrospective pharmacokinetic analysis revealed a change in eculizumab clearance, associated with a simultaneous increase in proteinuria.
Conclusion:
High intra-patient variability of eculizumab pharmacokinetics were observed over time, emphasizing the necessity for adequate and continuous therapeutic drug monitoring in aHUS patients. Eculizumab serum trough levels together with complement activation markers (CH50) should be frequently assessed, especially during tapering of drug therapy and/or changing clinical conditions in the patient. In addition, an increase in proteinuria could result in urinary eculizumab loss, indicating that urinary monitoring of eculizumab may be important in aHUS patients with an unexplained decline in serum concentrations.
Myotonic dystrophy-1 complicated by factor-v (leiden) mutation
Authors: Josef Finsterer, Claudia Stöllberger
Journal: Case Rep Med (2015)

Objectives. Presence of a factor-V Leiden mutation in a patient with myotonic dystrophy type 1 (DM1) has been reported only once. Here we report the second DM1 patient carrying a factor-V mutation who died from long-term complications of this mutation. Case Report. A 66-year-old DM1 patient with multi-organ-disorder syndrome developed a first deep venous thrombosis (DVT) and consecutive pulmonary embolism (PE) at age 50 y. Acetyl-salicylic acid was given. One year later he experienced a second DVT; that is why phenprocoumon was started. Despite anticoagulation, he experienced a third DVT bilaterally and a second PE bilaterally at 61 y; that is why a vena cava filter was additionally deployed. Despite therapeutic anticoagulation, he experienced a vena cava filter thrombosis at age 62 y. Genetic workup revealed a heterozygous factor-V mutation in addition to a CTG-repeat expansion of 500. As a consequence of PE he developed chronic obstructive pulmonary disease and experienced recurrent pulmonary infections, which were lastly responsible for decease at age 66 y despite intensive care measures. Conclusion. The heterozygous Leiden mutation may severely affect DM1 patients to such a degree that they die from its complications. If DM1 patients present with unusual manifestations, search for causes other than a CTG-repeat expansion is indicated.
Case Report: An Unusual Case of Acute Lower Limb Ischemia as Precursor of the Asherson's Syndrome
Authors: Edoardo Pasqui, Silvia Camarri, Gianmarco de Donato, Stefano Gonnelli, Giancarlo Palasciano, Luigi Gennari
Journal: Front Cardiovasc Med (2021)
Keywords: antiphospholipid syndrome, catastrophic antiphospholipid syndrome, acute limb ischemia, autoimmune disease, peripheral artery disease
MeSH terms: Case Reports

Introduction: Asherson's Syndrome, also defined as Catastrophic Antiphospholipid Syndrome (CAPS), represents the most severe manifestation of Antiphospholipid Antibody Syndrome. Rarely, the first CAPS diagnosis is based on macro-thrombotic event as acute limb ischemia. Case Presentation: We present a case of a 65-year-old woman admitted with an acute lower limb arterial ischemia with a complete occlusion of all the three tibial vessels. Three endovascular recanalization procedures were performed contemporary to 48 h intraarterial thrombolysis administration. The patency of tibial arteries was restored with a near-complete absence of digital arteries and microvessel perfusion of the foot. In the following days, an aggressive foot gangrene was established, leading to a major lower-limb amputation. Due to the general clinical status worsening and aggressiveness of ischemic condition, further investigations were performed leading to the diagnosis of an aggressive Asherson's Syndrome that was also complicated by a severe heparin-induced thrombocytopenia. Medical management with a high dose of intravenous steroids and nine sessions of plasma exchange led to a clinical condition stabilization. Conclusion: In our case, the presence of a "sine causa" acute arterial occlusion of a large vessel represented the first manifestation of an aggressive form of Asherson's Syndrome that could represent a fatal disease. Due to the extreme variety of manifestations, early clinical suspicion, diagnosis, and multidisciplinary management are essential to limit the life-threatening consequences of patients.
A Rare Case of Schistosomiasis (Bilharzia) of the Bladder in a Non-Endemic Area
Authors: Haresh G Thummar, Hemen I Vithlani, Pokhraj P Suthar, Deepa Regina John, Nisha Thummar, Harendra Chauhan
Journal: Pol J Radiol (2017)
Keywords: calcinosis, endemic diseases, hematuria, parasitic diseases, urogenital abnormalities
MeSH terms: Case Reports

Background:
Schistosomiasis or snail fever is an endemic parasitic infection caused by various trematodes of the genus Schistosoma. People acquire the disease through contact with water containing infected snails. It is one of the most widespread human parasitic infections in tropical and subtropical regions of the world such as Africa, South America, the Middle East, Asia and the Caribbean. In 1996, the World Health Organisation estimated that more than 200 million people living in rural areas are affected by this disease. However, the diagnosis is difficult in low prevalence areas because of a low index of suspicion.
Case report:
Herein, we present a case of a 14-year old boy who had intermittent passage of blood in urine for the past 3 years. Clinical examination and initial investigations did not reveal any abnormality. Bladder schistosomiasis was suspected after contrast-enhanced computed tomography and later confirmed by cystoscopic biopsy.
Conclusions:
Bladder schistosomiasis is a prevalent disease in the developing countries, but in non-endemic areas diagnosis may be often missed. The diagnosis should be considered in patients presenting with sporadic episodes of haematuria who have immigrated from or travelled to areas where this disease is endemic.
Hematologic manifestations in a child with HIV; a Case Report
Authors: Sh Osiya, F Binesh, F Ferdosian, M Shakiba
Journal: Iran J Ped Hematol Oncol (2012)
Keywords: child, hiv, signs and symptoms
MeSH terms: Case Reports

Background:
Immune deficiency in human might be primary or secondary and could be seen with a wide variety of manifestations. In the following, we presented a Child with various complains that diagnosed to have HIV infection.
Case report:
A 2/5 y/o child was admitted to the hospital for FUO with prolonged cough, FTT, cervical lymphadenopathy, hepatosplenomegaly and bilateral optic neuritis. . He was hospitalized for fever, cytopenia and hepatosplenomegaly one year ago, and three months later in an outpatient visit, these signs improved, except thrombocytopenia. In evaluation, bicytopenia, elevated ESR, hyperlipidemia, hyperproteinemia, thrombosis of the transverse sinus of brain, antiphospholipid antibodies , decreased levels of protein S and factor V Leiden and increased level of anti thrombin III were detected. Consequently, the result of HIV antibody showed positive. In addition to warfarin and cotrimoxazole therapy, he was referred to special center for possible HARRT therapy.
Conclusion:
In approach to patients with various clinical presentations such as cytopenia, recurrent or persistent lymphadenopathy, unexplained hyperproteinemia or hyperlipidemia, evaluation of HIV infection is highly recommended for consideration and further therapy.
Submucosal lipoma of the sigmoid colon as a rare cause of mucoid diarrhea: a case report
Authors: S U B Dassanayake, N P Dinamithra, N M M Nawarathne
Journal: J Med Case Rep (2016)
MeSH terms: Colon, Sigmoid / pathology, Colonic Neoplasms / complications, Colonoscopy, Diarrhea / etiology, Lipoma / complications, Case Reports, Aged, Colonic Neoplasms / diagnostic imaging, Colonic Neoplasms / surgery, Diarrhea / diagnostic imaging, Humans, Lipoma / diagnostic imaging, Lipoma / surgery, Male, Tomography, X-Ray Computed, Treatment Outcome

Background:
Symptomatic presentations of colonic lipomas are very rare in clinical practice, and may mimic colonic malignancy. The likelihood of presenting symptoms has been shown to depend on the size of the lesion.
Case presentation:
We describe the case of a 72-year-old Sinhalese man presenting with worsening mucoid diarrhea who was subsequently diagnosed to have a lipoma of the sigmoid colon. His disease was successfully managed with endoscopic resection.
Conclusion:
Confidently establishing the rare diagnosis of a colonic lipoma usually requires a combination of endoscopic, radiological, and histological evaluation, and is therefore very challenging. With the advancement of endoscopic procedures, endoscopic resection is widely practiced as the definitive management of these cases.
T lymphoblastic lymphoma with BCR-ABL negative chronic myeloid leukaemia: a novel association
Authors: Mahwish Faizan, Saadia Anwar, Rahat Ul Ain, Huma Zafar, Nazish Saqlain, Zunaira Rathore
Journal: Ecancermedicalscience (2021)
Keywords: atypical chronic myeloid leukaemia, children, lymphoblastic lymphoma
MeSH terms: Case Reports

Lymphoblastic lymphoma and chronic myeloid leukaemia (CML) are two distinct neoplasms with different pathogenesis and clinical presentation. We hereby share a challenging case of a child presenting with fever, leucocytosis, generalised lymphadenopathy and massive splenomegaly. He was diagnosed as having novel association of concurrent T-lymphoblastic lymphoma diagnosed on cervical lymph node biopsy with BCR-ABL negative CML on bone marrow aspirate. The study of more such cases is needed for optimal patient management.
GPi DBS treatment outcome in children with monogenic dystonia: a case series and review of the literature
Authors: Darko Chudy, Marina Raguž, Vladimira Vuletić, Valentino Rački, Eliša Papić, Nataša Nenadić Baranašić, Nina Barišić
Journal: Front Neurol (2023)
Keywords: dyt6 gene, gpi-dbs, kmt2b dystonia, neurosurgery, pediatric genetic dystonia
MeSH terms: Case Reports

Introduction:
Dystonia is the third most common pediatric movement disorder and is often difficult to treat. Deep brain stimulation (DBS) of the internal pallidum (GPi) has been demonstrated as a safe and effective treatment for genetic dystonia in adolescents and adults. The results of DBS in children are limited to individual cases or case series, although it has been proven to be an effective procedure in carefully selected pediatric cohorts. The aim of our study was to present the treatment outcome for 7- to 9-year-old pediatric patients with disabling monogenic isolated generalized DYT-THAP1 and DYT-KMT2B dystonia after bilateral GPi-DBS.
Patients and results:
We present three boys aged <10 years; two siblings with disabling generalized DYT-THAP1 dystonia and a boy with monogenic-complex DYT-KMT2B. Dystonia onset occurred between the ages of 3 and 6. Significantly disabled children were mostly dependent on their parents. Pharmacotherapy was inefficient and patients underwent bilateral GPi-DBS. Clinical signs of dystonia improved significantly in the first month after the implantation and continued to maintain improved motor functions, which were found to have improved further at follow-up. These patients were ambulant without support and included in everyday activities. All patients had significantly lower Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) values, indicating >25% improvement over the first 15 months. However, there was a decline in speech and upper limb function, manifesting with bradylalia, bradykinesia, and dysphonia, which decreased after treatment with trihexyphenidyl.
Conclusion:
Although reports of patients with monogenic dystonia, particularly DYT-THAP1, treated with DBS are still scarce, DBS should be considered as an efficient treatment approach in children with pharmacoresistent dystonia, especially with generalized monogenic dystonia and to prevent severe and disabling symptoms that reduce the quality of life, including emotional and social aspects. Patients require an individual approach and parents should be properly informed about expectations and possible outcomes, including relapses and impairments, in addition to DBS responsiveness and related improvements. Furthermore, early genetic diagnosis and the provision of appropriate treatments, including DBS, are mandatory for preventing severe neurologic impairments.
Intramuscular hemangioma in the zygomaticus muscle: A rare case report presentation and diagnosis
Authors: Ashwag Yagoub Aloyouny, Mohamed Salah Mehanny, Hamad Nasser Albagieh, Wafa Mohammed Alfaleh, Soad Mahmoud Mansour, Fahmy A Mobarak
Journal: Int J Surg Case Rep (2020)
Keywords: case reports, intramuscular hemangioma, vascular lesions, zygomatic bone, zygomaticus muscle
MeSH terms: Case Reports

Introduction:
intramuscular hemangioma (IMH) is a relatively rare benign vascular tumor of the skeletal muscles. It shows less than 1% of all soft tissue hemangiomas. In the head and neck area, it occurs usually in the masseter muscle followed by temporalis and sternocleidomastoid muscles.
Presentation of case:
we present a case of 25-year-old male patient with a chief complaint of slowly growing facial swelling in the left zygomatic area. Clinical, imaging and histopathological evaluation lead to the diagnosis of intramuscular hemangioma in the zygomaticus major muscle.
Discussion:
IMH in the zygomaticus muscle is very rare; hence, the clinical diagnosis of IMH is challenging. Different diagnostic procedures can be used such as CT and MRI. In addition, the ideal therapy for esthetic disfiguring IMH in the head are is the complete surgical excision of the lesion. Through the review of literature and to our knowledge this case is the first report of intramuscular hemangioma in the zygomaticus muscle.
Conclusion:
IMHs are rare in the head and neck area and must be considered in differential diagnosis of isolated muscle mass in this region.
A Rare Case Diagnosed by Videothoracoscopic Lung Biopsy: Diffuse Pulmonary Meningotheliomatosis
Authors: Anton Dzian, Marek Malík, Ľuboš Hamada, Jozef Mičák, Ivana Gregorová, Gabriela Košturiaková
Journal: Case Rep Pulmonol (2021)
MeSH terms: Case Reports

Diffuse pulmonary meningotheliomatosis (DPM) is reported as a diffuse parenchymal lung disease characterized by disseminating small asymptomatic nodules. These lesions are often detected incidentally as microscopic findings in lung specimens or autopsies examined by a pathologist. We report a case of a 60-year-old male asymptomatic patient presenting with multiple bilateral pulmonary nodules on high-resolution computed tomography and diagnosed by videothoracoscopic surgery. Differential diagnosis of patients presenting with diffuse indeterminate nodules is very important. Definitive diagnosis of DPM requires histopathology and most often videothoracoscopic lung biopsy.
Excessive elevation of serum phosphate during tumor lysis syndrome: Lessons from a particularly challenging case
Authors: Prince K Amaechi, Fredrik Jenssen, Zipporah Krishnasami, Anand Achanti, Tibor Fülöp
Journal: Clin Nephrol Case Stud (2021)
Keywords: acute kidney injury, continuous renal replacement therapy, dialysis disequilibrium syndrome, hypocalcemia, metabolic acidosis, osmolality
MeSH terms: Case Reports

Burkitt's lymphoma is a common cause of tumor lysis syndrome (TLS) and, in the era of aggressive utilization of prophylactic allopurinol and recombinant uricase enzyme, nephrologists are increasingly witnessing monovalent or divalent cation abnormalities without marked uric acid elevation. An 18-year-old male received his 1st cycle of intensive chemotherapy for Burkitt's lymphoma and developed TLS as defined by the Cairo Bishop criteria. Lactate dehydrogenase peaked at 9,105 U/L (range: 130 - 250) and was accompanied by acute kidney injury, including serum creatinine 2.2 mg/dL on the 4th day with oliguria, hyperkalemia, extreme hyperphosphatemia (21.4 mg/dL), hypermagnesemia, and hypocalcemia. Renal replacement therapy decision was made based on life-threatening electrolyte disturbances. The competing necessity to effectively control hyperphosphatemia and avoid the complication of dialysis disequilibrium syndrome prompted us to perform an initial intermittent hemodialysis with simultaneous intravenous mannitol administration, followed by continuous hemodialysis to manage the continued production of phosphorus from cell lysis. Osmotic stability during the therapy session was affirmatively demonstrated (322, 319 mOsm/kg, respectively). The patient showed excellent tolerance for these therapies and eventually recovered renal function as demonstrated during follow-up visits.
Synchronous Seminoma in Abdominopelvic and Inguinal Testes: A Rare Presentation with Unusual Morphology
Authors: Neha Prabhakar, Bhawna Sethi, Seema Nagger, Arun Saxena
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

The development of testes occurs in the abdomen during fetal life, after which they migrate into the scrotal sacs during the third trimester. During their descent, they may get arrested anywhere along the tract. Risk of testicular cancer is higher in patients with undescended testes, abdominal testis being more prone than inguinal. Seminoma is the commonest cancer in undescended testis. However, synchronous seminoma involving bilateral cryptorchid testis is rare. Present case is uncommon due to synchronous involvement of abdominopelvic and inguinal testes in extended age. It also exhibited unusual morphology with marked heterogeneity grossly as well as microscopically, instead of a common homogenous appearance.