OpenMed/multicare-articles huggingface dataset:
A laparoscopic treatment of a suspicious adrenal mass revealing an unsual cause of adrenal incidentaloma
Authors: Houda Salhi, My Youssef Alaoui Lamrani, Nawal Hammas, Ousadden Abdelmalek, Hanan El Ouahabi
Journal: Pan Afr Med J (2019)
Keywords: adrenal incidentaloma schwannoma, adrenalectomy
MeSH terms: Adrenal Gland Neoplasms / diagnosis, Laparoscopy / methods, Neurilemmoma / diagnosis, Case Reports, Adrenal Gland Neoplasms / surgery, Adult, Humans, Neurilemmoma / surgery, Adrenal incidentaloma

Schwannomas are rare tumors, usually benign, originating from the Schwann sheath of the peripheral or cranial nerves. They are an extremely uncommon cause of adrenal incidentaloma. It is difficult to diagnose adrenal schwannoma preoperatively by imaging alone due of their aspect suspect on it. We report a case of adrenal mass discovered incidentally in a 41 years old patient who presented an atypical abdominal pain. Biological assessment was unremarkable, and imaging studies did not show strict imaging criteria for a typical adenoma. A surgical excision of the adrenal incidentaloma was decided. Histopathological examination and immunohistochemical staining of the excised specimen revealed a benign schwannoma.
Hyperhomocysteinemia in a Patient with Moyamoya Disease
Authors: Durga Shankar Meena, Gopal Krishana Bohra, Mahadev Meena, Bharat Kumar Maheshwari
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

Moyamoya disease is a chronic progressive cerebrovascular disease characterized by bilateral occlusion or stenosis of arteries around circle of Willis. We report a case of 18-year-old female presented with recurrent episodes of headache and vertigo. On cerebral angiography, the patient was diagnosed to have moyamoya disease. On further evaluation, thrombophilia profile showed increased homocysteine level. The patient was treated conservatively with cobalamin and aspirin and advised for revascularization. According to the literature, there are few case reports of moyamoya disease with thrombotic disorders. Hence, we are reporting this interesting and rare case.
Treatment of Listeria monocytogenes bacteremia with oral levofloxacin in an immunocompromised patient
Authors: Yo Ishihara, Kenichiro Akazawa
Journal: IDCases (2023)
Keywords: bacteremia, immunocompromised host, levofloxacin, listeria, listeriosis
MeSH terms: Case Reports

A 72-year-old woman presented with fever, malaise, and diarrhea. The patient was conscious, and was negative for meningeal signs on physical exam. Blood tests revealed elevated C-reactive protein (CRP) and white blood cell count with neutrophil dominance. Suspecting a bacterial infection, empirical antimicrobial treatment with oral levofloxacin was initiated after collecting two sets of blood culture. On the 3rd day, the patient's fever resolved. On the 7th day, Listeria monocytogenes bacteremia was diagnosed with both blood cultures turning positive. On the 15th day, the patient's symptoms had improved. We ceased treatment when the CRP level decreased. Listeria monocytogenes is a gram-positive bacterium that causes serious infections in elderly and immunocompromised hosts. Penicillin, ampicillin, amoxicillin, and gentamicin are recommended for the treatment of Listeria infections. It has been reported that new fluoroquinolones may be effective in vitro and in animal models. Although further evidence is required, new fluoroquinolones, especially levofloxacin, may provide an option for the treatment of Listeria infection.
A case of gestational gigantomastia in a 37-years-old woman associated with elevated ANA: a casual linkage?
Authors: Nicola Zingaretti, Fabrizio De Biasio, Michele Riccio, Nastassia Nardini, Laura Mariuzzi, Pier Camillo Parodi
Journal: Pan Afr Med J (2017)
Keywords: gigantomastia, breast hypertrophy, pregnancy, reduction mammoplasty, undifferentiated connective tissue disease
MeSH terms: Antibodies, Antinuclear / blood, Breast / abnormalities, Hypertrophy / pathology, Mammaplasty / methods, Pregnancy Complications / pathology, Case Reports, Adult, Breast / immunology, Breast / pathology, Breast / surgery, Female, Humans, Hypertrophy / immunology, Hypertrophy / surgery, Nipples / surgery, Pregnancy, Pregnancy Complications / immunology, Pregnancy Complications / surgery, Antibodies, Antinuclear, Gigantomastia

Hypertrophy of the breast (macromastia and gigantomastia) is a rare medical condition of the breast connective tissues. The etiology of this condition is still not clear; rarely, gigantomastia has been reported to develop in the setting of an autoimmune illness. We reported a case of a 37-years-old woman with undifferentiated connective tissue disease of 2-years duration presented with enlargement of breasts. The breast enlargment started at 5 months of gestation. She successfully underwent reduction mammoplasty with free nipple graft. In the succeeding months the level of antinuclear ANA remained stable. It is uncertain whether a positive antinuclear antibodies in gigantomastia is a casuative agent or an effect.
Denture Induced Submandibular Hematoma in a Patient on Warfarin
Authors: Yeap Boon Tat, Rajesh Kumar Muniandy, Lily Ng Mooi Hang
Journal: Case Rep Anesthesiol (2018)
MeSH terms: Case Reports

A 79-year-old lady, who was taking warfarin, presented to the Emergency Department with a painless anterior neck swelling, which was associated with hoarseness of voice, odynophagia, and shortness of breath. She first noticed the swelling after she removed her dentures in the evening. On examination, she had an increased respiratory rate. There was a large submandibular swelling at the anterior side of her neck. Upon mouth opening, there was a hematoma at the base of her tongue, which extended to both sides of the tonsillar pillars. The patient was intubated with a video laryngoscope due to her worsening respiratory distress. Intravenous vitamin K and fresh frozen plasma were given immediately. The patient was admitted to the ICU for ventilation and observation. The hematoma subsided after 2 days and she was discharged well.
Capsule Endoscopy in a Patient with an Implanted CCM System and an Implantable Defibrillator
Authors: Florian Streitner, Nina Schoene, Martin Borggrefe, Jürgen Kuschyk
Journal: Case Rep Cardiol (2011)
MeSH terms: Case Reports

Wireless video capsule endoscopy (CE) is a modern diagnostic tool. Because of its use of digital radiofrequency, it is still relatively contraindicated in patients with implanted cardiac devices. We report the case of a patient with an Optimizer III system delivering cardiac contractility modulating signals (CCM) for heart failure therapy and an implantable cardioverter defibrillator (ICD) who underwent CE. No interferences between the devices were found.
Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl
Authors: Ling Hou, Yue Du, Yubin Wu, Yue Zeng, Chengguang Zhao
Journal: Front Pediatr (2021)
Keywords: lmx1b, congenital corneal leucoma, missense variation, nail-patella syndrome, steroid-resistant nephrotic syndrome
MeSH terms: Case Reports

Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic tetrad of absent or hypoplastic finger and toe nails, absent or hypoplastic patella, skeletal deformities involving the elbow joints, and iliac horns. This disease is caused by heterozygous pathogenic variations in the LMX1B gene, which encodes the LIM homeodomain transcription factor protein (LMX1B). We report a case of corneal leucoma and dysplasia prior to overt steroid-resistant nephrotic syndrome (SRNS) in a patient with NPS. At presentation, the parents of a 5-year-old female patient reported their daughter had corneal leucoma, psychomotor delay and speech defect. We also noted the presence of bilateral edema of the lower extremities, hypertension, nail dystrophy, and the bilateral absence of patella. She developed steroid-resistant nephrotic syndrome. Lowe oculocerebrorenal syndrome and NPS were the conditions considered in differential diagnosis. Trio-based whole genome sequencing indicated a heterozygous de novo likely pathogenic variation in the LMX1B gene (c.805A>C [p.Asn269His]). Patients with NPS often develop nail, ocular, or orthopedic symptoms prior to nephrotic syndrome. Corneal leucoma may be a novel clinical presentation of NPS.
Primary mediastinum Ewing's sarcoma with pleural effusion: A case report and literature review
Authors: Xuhong Li, Shan Qi, Taiwen Zhu, Ying Jiang, Wei Wang
Journal: Open Life Sci (2023)
Keywords: extraskeletal ewing’s sarcoma, mediastinum ewing’s sarcoma, pleural effusion
MeSH terms: Case Reports

Ewing's sarcoma (ES) is an aggressive cancer in young adults. Primary ES occurring in the chest with pleural effusion is even rarer. We report the case of a 15-year-old girl who presented with intermittent chest pain occurring for more than 2 months and cough and wheezing for 10 days. Radiological imaging showed a large soft tissue mass with multiple small vessel shadows near the left mediastinum and bloody pleural effusion in the left thorax. ES was diagnosed by positive immunostaining for CD99, FLI-1, and NKX2 combined with fluorescence in situ hybridization detection of the EWSR1 gene arrangement. With chemotherapy, lung computed tomography revealed that the tumor had become much smaller, and the fluid was absorbed. We report a case of extraskeletal Ewing's sarcoma (EES) in the mediastinum with pleural effusion, which is unusual and challenging. EES is a highly malignant tumor with a poor prognosis. Early diagnosis and treatment can improve the survival rate of patients.
A Case of Reverse Takotsubo Cardiomyopathy Incited by a Spinal Subdural Hematoma
Authors: Kyle Sanchez, Steven Glener, Nathan E Esplin, Okorie N Okorie, Amay Parikh
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

Takotsubo cardiomyopathy is a rare syndrome of transient, reversible left ventricular systolic dysfunction. It mimics myocardial infarction clinically and includes elevated cardiac enzymes, but echocardiography reveals apical ballooning and basal hyperkinesis. Infrequently, midventricular or even reverse Takotsubo patterns have been described, involving ballooning of the basal heart without the characteristic 'Takotsubo' appearance. There are cases in the literature that support a connection between reverse Takotsubo cardiomyopathy (r-TTC) and neurological insults as inciting factors. We report a case of r-TTC in an otherwise healthy 23-year-old man presenting with back pain, urinary retention, bradycardia, and hypertension. Troponin levels and brain natriuretic peptide (BNP) were elevated, and echocardiogram revealed an ejection fraction (EF) of less than 20%. In addition, MRI demonstrated a spinal subdural hematoma from T1-S1 with no cord compression. Repeated echocardiogram demonstrated an EF of 20-25% with a reverse Takotsubo pattern of cardiomyopathy. With supportive care, his clinical picture improved with normalization of cardiac enzyme and BNP values. This case represents a r-TTC presenting as heart failure in a young, apparently healthy male likely incited by a spinal subdural hematoma. To our knowledge, it is the first of its kind reported.
Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature
Authors: Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Marek Niedziela, Anna Sowińska-Seidler, Paweł Sztromwasser, Aleksander Jamsheer, Monika Obara-Moszyńska
Journal: Front Pediatr (2022)
Keywords: map2k1, craniofacial dysmorphism, growth hormone, immunodeficiency, immunoglobulins, rasopathy, short stature
MeSH terms: Case Reports

Cardio-facio-cutaneous syndrome (CFCS) belongs to the group of RASopathies, clinical disorders defined by disruptions in the RAS/MAPK signaling pathway. It is caused by heterozygous gain-of-function germline mutations in genes encoding protein kinases: BRAF, MAP2K1 (MEK1), MAP2K2 (MEK2), and in the GTPase-encoding gene KRAS. CFCS is characterized by craniofacial dysmorphic features, congenital heart defects, severe malnutrition, proportionate short stature, anomalies within the structure of skin and hair, and psychomotor disability. The pathophysiology of growth impairment is multifactorial with feeding difficulties, growth hormone deficiency, and insensitivity. Immunodeficiency has not been hitherto reported as an integral part of CFCS yet an increased activation of the RAS/MAPK signaling pathway may contribute to explaining the causal relationship between RASopathy and the dysfunctions within the B and T lymph cell compartments resulting in a deficiency in T cell costimulation and B cell maturation with impaired class switch recombination, somatic hypermutation, and high-affinity antibody production. We report on a boy born prematurely at 32 WGA, with the perinatal period complicated by pneumonia, respiratory distress syndrome, and valvular pulmonary stenosis. The boy suffered from recurrent pneumonia, obstructive bronchitis, sepsis, urinary tract infection, and recurrent fevers. He presented with severe hypotrophy, psychomotor disability, short stature, craniofacial dysmorphism, dental hypoplasia, sparse hair, and cryptorchidism. Whole genome sequencing showed a novel heterozygous pathogenic germline missense variant: c.364A > G; p.Asn122Asp in the MAP2K1 gene, supporting the diagnosis of CFCS. The immunological workup revealed hypogammaglobulinemia, IgG subclass, and specific antibody deficiency accompanied by decreased numbers of T helper cells and naive and memory B cells. Replacement immunoglobulin therapy with timely antibiotic prophylaxis were instituted. At the age of six years, growth hormone deficiency was diagnosed and the rGH therapy was started. The ever-increasing progress in genetic studies contributes to establishing the definitive CFCS diagnosis and sheds the light on the interrelated genotype-phenotype heterogeneity of RASopathies. Herein, we add new phenotypic features of predominating humoral immunodeficiency to the symptomatology of CFCS with a novel mutation in MAP2K1. While CFCS is a multifaceted disease, increased pediatricians' awareness is needed to prevent the delay in diagnostics and therapeutic interventions.
Gastrointestinal Stromal Tumor Induced Hypercalcemia
Authors: Aram Barbaryan, Stefania Bailuc, Padma Poddutoori, Aida Richardson, Aibek E Mirrakhimov
Journal: Case Rep Oncol Med (2017)
MeSH terms: Case Reports

Hypercalcemia in patients with cancer is a common laboratory finding affecting up to 44% of that patient population. 1,25-Dihydroxyvitamin D3 mediated hypercalcemia is one of the rare mechanisms of this endocrine emergency in cancer patients. It is even rarer for solid organ neoplasms to present with hypercalcemia mediated through the production of 1,25-dihydroxyvitamin D3. We report a case of a 77-year-old female who presented to the hospital with hypercalcemia and later was found to have metastatic gastrointestinal stromal tumor. There have been only 5 cases of gastrointestinal stromal tumor described in literature resulting in hypercalcemia. In our case, the mechanism of hypercalcemia was thought to be related to overproduction of 1,25-dihydroxyvitamin by tumor cells. The patient had a favorable response to imatinib with normalization of serum calcium level. Unfortunately, she developed fluid retention due to imatinib which was discontinued resulting in relapse of hypercalcemia that was resistant to all other treatment options.
Can Heparin-Coated ECMO Cannulas Induce Thrombocytopenia in COVID-19 Patients?
Authors: Barbara Steinlechner, Gabriele Kargl, Christine Schlömmer, Caroline Holaubek, Georg Scheriau, Sabine Eichinger, Johannes Gratz, Bernhard Rössler
Journal: Case Reports Immunol (2021)
MeSH terms: Case Reports

Extracorporeal membrane oxygenation (ECMO) is often used in the management of COVID-19-related severe respiratory failure. We report the first case of a patient with COVID-19-related ARDS on ECMO support who developed symptoms of heparin-induced thrombocytopenia (HIT) in the absence of heparin therapy. A low platelet count of 61 G/L was accompanied by the presence of circulating HIT antibodies 12 days after ECMO initiation. Replacement of the ECMO system including cannulas resulted in the normalization of the platelet count. However, the clinical situation did not improve, and the patient died 9 days later. Careful consideration of anticoagulant therapy and ECMO circuit, as well as routine HIT antibody testing, may prevent a fatal course in ECMO-supported COVID-19 patients.
Descending necrotising mediastinitis: a case report illustrating a trend in conservative management
Authors: B A P Jayasekera, O T Dale, R C Corbridge
Journal: Case Rep Otolaryngol (2012)
MeSH terms: Case Reports

The mortality rate from descending necrotising mediastinitis (DNM) has declined since its first description in 1938. The decline in mortality has been attributed to earlier diagnosis by way of contrast-enhanced computed tomographic (CT) scanning and aggressive surgical intervention in the form of transthoracic drainage. We describe a case of DNM with involvement of anterior and posterior mediastinum down to the diaphragm, managed by cervicotomy and transverse cervical drainage with placement of corrugated drains and a pleural chest drain, with a delayed mediastinoscopy and mediastinal drain placement. We advocate a conservative approach with limited debridement and emphasis on drainage of infection in line with published case series.
Diffuse and disseminated cutaneous leishmaniasis: clinical cases experienced in Ecuador and a brief review
Authors: Yoshihisa Hashiguchi, Eduardo L Gomez, Hirotomo Kato, Luiggi R Martini, Lenin N Velez, Hiroshi Uezato
Journal: Trop Med Health (2016)
Keywords: cutaneous leishmaniasis, differentiation, diffuse, disseminated, ecuador, old and new worlds

Background:
In Ecuador, cutaneous leishmaniasis (CL) is prevalent countrywide, but only one case of diffuse-CL and two cases of disseminated-CL were experienced during our research activities more than 30 years from 1982 to date. These three patients suffered from multiple lesions distributed at a wide range of the body surface, revealing difficulty to clinically differentiate each other.
Methods:
There is a considerable confusion of the use and/or differentiation of the terminologies (terms) between the two disease forms, diffuse-CL and disseminated-CL. One of the aims of the present study is to clarify the difference between the two disease forms, mainly based on the cases experienced in Ecuador.
Results:
The disseminated-CL case newly reported here was clinically very similar to the diffuse-CL case, but the former showed the following marked differences from the latter: (1) the organisms isolated were identified as the parasites of Leishmania (Viannia) guyanensis/panamensis, which are also known as the causative agents of disseminated-CL in different endemic countries of the New World; (2) the patient was sensitive against antimonials; and (3) mucosal involvement was observed, which is never observed in diffuse-CL.
Conclusions:
In the text, three clinical cases, one diffuse-CL and two disseminated-CL, were presented. Furthermore, a bibliographic comparison of the features between the two disease forms was made, and a brief comment was also given.
Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia (DIPNECH): A Case of Indolent Pulmonary Nodules Diagnosed with Robotic-Assisted Navigational Bronchoscopy
Authors: Adam Purdy, Firas Ido, Deborah Stahlnecker
Journal: Case Rep Pulmonol (2021)
MeSH terms: Case Reports

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is an atypical pulmonary disorder with limited understanding. Given the rare nature of this disease, it is essential to obtain adequate tissue pathology to confirm the diagnosis. This disease is mainly diagnosed in middle-aged, nonsmoking females, and it is now accepted as a precursor lesion to pulmonary carcinoid tumors. DIPNECH presents with characteristic radiographic and histologic findings, but its diagnosis, management, and prognosis are often underrecognized and poorly understood. Those with symptoms may present with shortness of breath, wheezing, and persistent cough and are often misdiagnosed with reactive airway disease. Pulmonary function testing may reveal airflow obstruction and air trapping. Imaging is characterized by multiple lung nodules, typically less than 5 mm in size, with a background mosaic attenuation on computed tomography imaging. Histologically, DIPNECH can be suspected based on the presence of hyperplastic neuroendocrine cells. DIPNECH is considered a precursor to invasive neuroendocrine tumor, and up to 50% of patients may have a well-differentiated neuroendocrine tumor at the time of presentation. Here, we present the case of a 46-year-old female with a history of ulcerative colitis on mesalamine who presented with a 6-month history of ongoing shortness of breath, chest tightness, wheezing, and cough. She was initially diagnosed with asthma before imaging later revealed as multiple pulmonary nodules with a diffuse mosaic pattern. Using robotic-assisted navigational bronchoscopy, she underwent sampling of a dominant 1.8 cm right middle lobe pulmonary nodule and pathology was consistent with low-grade neuroendocrine tumor.
Synchronous peritoneal carcinomatosis from a buccal squamous cell carcinoma: a case report focusing on possible metastatic mechanisms and novel therapeutic modalities
Authors: Frank S Fan, Chung-Fan Yang
Journal: Ecancermedicalscience (2019)
Keywords: cd36, cd44, buccal cancer, metastatic mechanism, peritoneal carcinomatosis, squamous cell carcinoma
MeSH terms: Case Reports

A 53-year-old male patient was diagnosed with squamous cell carcinoma of buccal mucosa with synchronous diffuse peritoneal carcinomatosis, a very rare presentation for oral cancer. His disease was highly resistant to intensive systemic chemotherapy and progressed rapidly. So far as we know, there were only five cases with peritoneal involvement by metastatic head and neck cancer reported prior to this patient in the English literature. Immunohistochemistry study revealed that tumour specimens from both oral cavity and peritoneum were negative for tumour necrosis factor alpha and CD24 but positive for CD44 and CD36. These four molecules have been disclosed to be involved in the process of peritoneal metastasis from ovarian cancer. Their roles in the metastatic pathway and possible therapeutic policy targeting at them will be thoroughly discussed.
A case report of maxillary second molar with two palatal root canals and a furcal enamel pearl
Authors: Shiva Shojaeian, Jamileh Ghoddusi, Sara Hajian
Journal: Iran Endod J (2013)
Keywords: endodontics, furcation, molar tooth, root canal, root canal therapies, tooth root
MeSH terms: Case Reports

This case report presents an uncommon case of maxillary molar with two palatal root canals and an enamel pearl in the furcation area. The article discusses root canal complexities of maxillary second molars as well as possibility of coexisting anomalies in the region that makes radiographic interpretation difficult and compromises the success of endodontic treatment.