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https://www.readbyqxmd.com/read/29166520/do-you-know-this-syndrome-ascher%C3%A2-s-syndrome-clinical-findings-of-little-known-triad
#1
Carolina Mendonça Gama Donato, Daniel Fernandes Melo, Juliana de Noronha Santos
Ascher's syndrome consists of double lip, blepharochalasis and sometimes non-toxic thyroid enlargement. It is a rare, benign, rarely reported, and sometimes misdiagnosed condition that most often affects patients under 20 years old. The etiology remains unknown, although factors such as trauma, hormonal dysfunction and heredity have been suggested. Treatment based on surgical intervention is indicated to improve aesthetics or function. The presented case shows a patient diagnosed with Ascher's syndrome based on clinical findings such as double lip and blepharochalasis...
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29166502/outcomes-of-long-term-treatments-of-type-i-hereditary-angioedema-in-a-turkish-family
#2
Gulsen Akoglu, Belgin Kesim, Gokhan Yildiz, Ahmet Metin
BACKGROUND: Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks. OBJECTIVE: We aimed to investigate the clinical and genetic features of a family with angioedema attacks. METHODS: The medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes of long-term treatments were described. RESULTS: Five members had experienced recurrent swellings on the face and extremities triggered by trauma...
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29165943/-abdominal-wall-pain-the-%C3%A2-anterior-cutaneous-nerve-entrapment-syndrom-%C3%A2
#3
Jonathan Margalith, Reza Kehtari
Abdominal wall pain is a poorly recognized clinical problem and ofently misdiagnosed. It results in inappropriate diagnostic testing, unsatisfactory treatments and considerable costs. However, chronic abdominal wall pain can be easily diagnosed by a precise physical examination and can be rapidly and efficiently treated. Awareness of knowing criteria of the diagnosis is important but their validity needs to be evaluated in additional studies.
November 22, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29165834/juvenile-xanthogranuloma-with-angiomatous-appearance-and-a-peculiar-immunophenotype
#4
Joaquín López-Robles, Lucía Núñez, Elena Macias-Del-Toro, José Luis Ramírez-Bellver, José Luis Díaz, Luis Requena
Juvenile xanthogranuloma is the most common form of non-Langerhans cell histiocytosis in childhood. The clinical differential diagnosis of a solitary juvenile xanthogranuloma includes molluscum contagiosum, Spitz nevus, and melanoma. Lesions larger than 2 cm in diameter may be misdiagnosed as hemangiomas, but this is not typical of smaller juvenile xanthogranuloma. We report a case of solitary juvenile xanthogranuloma in a 10-year-old boy with angiomatous appearance and peculiar immunophenotype.
November 22, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29165437/endolymphatic-sac-tumour-in-von-hippel-lindau-disease-management-strategies
#5
E Zanoletti, L Girasoli, D Borsetto, G Opocher, A Mazzoni, A Martini
Endolymphatic sac tumour (ELST) is infrequent, as emerges from small series reported in the literature. It is a slow-growing malignancy with local aggressiveness and a low risk of distant metastases. It is often misdiagnosed because of the late onset of symptoms and difficulty in obtaining a biopsy. Its frequency is higher in von Hippel-Lindau (VHL) disease (a genetic systemic syndrome involving multiple tumours), with a prevalence of around 25%. The diagnosis is based on radiology, with specific patterns on contrast-enhanced MRI and typical petrous bone erosion on bone CT scan...
October 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/29164168/aids-related-endemic-mycoses-in-western-cape-south-africa-and-clinical-mimics-a-cross-sectional-study-of-adults-with-advanced-hiv-and-recent-onset-widespread-skin-lesions
#6
Ilan S Schwartz, Chris Kenyon, Rannakoe Lehloenya, Saskya Claasens, Zandile Spengane, Hans Prozesky, Rosie Burton, Arifa Parker, Sean Wasserman, Graeme Meintjes, Marc Mendelson, Jantjie Taljaard, Johann W Schneider, Natalie Beylis, Bonnie Maloba, Nelesh P Govender, Robert Colebunders, Sipho Dlamini
Background: Skin lesions are common in advanced HIV infection and are sometimes caused by serious diseases like systemic mycoses (SM). AIDS-related SM endemic to Western Cape, South Africa, include emergomycosis (formerly disseminated emmonsiosis), histoplasmosis, and sporotrichosis. We previously reported that 95% of patients with AIDS-related emergomycosis had skin lesions, although these were frequently overlooked or misdiagnosed clinically. Prospective studies are needed to characterize skin lesions of SM in South Africa and to help distinguish these from common HIV-related dermatoses...
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/29164012/benign-granuloma-masquerading-as-squamous-cell-carcinoma-due-to-a-floater
#7
Phalgoon A Shah, Madeleine P Prat, David C Hostler
Pathology specimen cross-contamination is a rare phenomenon in diagnostic pathology. Such "floaters" may result in delayed, missed or erroneous diagnoses. We describe the case of a patient with benign granuloma of the lung initially misdiagnosed as squamous cell carcinoma due to a "floater."
November 2017: Hawai'i Journal of Medicine & Public Health: a Journal of Asia Pacific Medicine & Public Health
https://www.readbyqxmd.com/read/29163993/21-year-old-pregnant-woman-with-mody-5-diabetes
#8
Anastasia Mikuscheva, Elliot McKenzie, Adel Mekhail
The term "Maturity-Onset Diabetes of the Young" (MODY) was first described in 1976 and is currently referred to as monogenic diabetes. There are 14 known entities accounting for 1-2% of diabetes and they are frequently misdiagnosed as either type 1 or type 2 diabetes. MODY-5 is an entity of monogenic diabetes that is associated with genitourinary malformations and should be considered by obstetricians in pregnant women with a screen positive for diabetes, genitourinary malformations, and fetal renal anomalies...
2017: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29163697/reoperation-following-the-use-of-non-standardized-procedures-for-malignant-parotid-tumors
#9
Xiangmin Zhang, Xiangfu Zeng, Xiaolin Lan, Jing Huang, Keqing Luo, Keqiang Tian, Xiuhong Wu, Fufu Xiao, Shaojin Li
Non-standardized or conservative procedures are employed when parotid tumors involving the facial nerve or parotid carcinoma are misdiagnosed as benign parotid tumors prior to or during surgery. Remedial measures are usually required when the pathological diagnosis of a malignant parotid tumor is confirmed following surgery. The aim of the present study was to systematically evaluate reoperation subsequent to treatment with non-standardized procedures for malignant parotid tumors, and to explore the preoperative diagnoses, the primary procedure selection and the necessity of reoperation following non-standardized procedures in malignant parotid tumors...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29163346/paroxysmal-symptoms-as-the-first-manifestation-of-multiple-sclerosis-mimicking-a-transient-ischemic-attack-a-report-of-two-cases
#10
Yao Zhang, Siyuan Fan, Fei Han, Yan Xu
Paroxysmal symptoms are unusual manifestations of multiple sclerosis (MS). When presented as the first clinical manifestation, paroxysmal symptoms may easily be mistaken for transient ischemic attack (TIA). Previously, several cases of MS that reported with paroxysmal symptoms were misdiagnosed as TIA. Here, we report two additional cases, focusing on the clinical characteristics of paroxysmal symptoms in MS. Both cases had paroxysmal symptoms as their first manifestation; one presented with transient dizziness, left face numbness, and right limb weakness, and the other presented with episodic lightheadedness, blurred vision, nausea, palpitations, and tremulousness upon standing...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29160525/colonic-basidiobolomycosis-with-liver-involvement-masquerading-as-gastrointestinal-lymphoma-a-case-report-and-literature-review
#11
Omid Reza Zekavat, Babak Abdolkarimi, Gholamreza Pouladfar, Gholamreza Fathpour, Maral Mokhtari, Nader Shakibazad
Basidiobolomycosis is an unusual fungal skin infection that rarely involves the gastrointestinal tract. This study reported a 5-year-old boy with gastrointestinal basidiobolomycosis that had been misdiagnosed as gastrointestinal lymphoma. He was treated by surgical resection and a combination of posaconazole and amphotericin B deoxycholate with an acceptable response and no recurrence.
September 2017: Revista da Sociedade Brasileira de Medicina Tropical
https://www.readbyqxmd.com/read/29159724/turkish-case-of-ethylmalonic-encephalopathy-misdiagnosed-as-short-chain-acyl-coa-dehydrogenase-deficiency
#12
Fatma Derya Bulut, Deniz Kör, Berna Şeker-Yılmaz, Gülen Gül-Mert, Sebile Kılavuz, Neslihan Önenli-Mungan
Ethylmalonic encephalopathy is a very rare autosomal recessively inherited inborn error of metabolism; characterized by encephalopathy, recurrent petechiae without bleeding diathesis, chronic diarrhea, and orthostatic acrocyanosis. Here, we describe a case of ethylmalonic encephalopathy with late onset neurologic symptoms and a confusing family history of two deceased brothers with the wrong suspicion of short chain acyl-CoA dehydrogenase deficiency.
November 20, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29159168/incidental-mesenteric-paraganglioma-a-case-report-and-literature-review
#13
Jennie Granger, Roy Mahapatra, Bushra Hamid, Katherine Gillespie, Matthew Fok, Dale Vimalachandran
Mesenteric paragangliomas are a rare entity; consequently, only 12 cases have been reported to date. Although considered benign and often found incidentally, they have the potential to metastasize and are an important diagnosis to consider for patients with a mesenteric tumor. We report the case of a 71-year-old woman who was found on magnetic resonance imaging to have an incidental, large, complex, intra-abdominal mass that had initially been misdiagnosed as ovarian in origin. She underwent an open resection of the tumor and adjacent small bowel with no perioperative complications; histology confirmed the mass to be a mesenteric paraganglioma...
October 2017: Annals of Coloproctology
https://www.readbyqxmd.com/read/29159027/a-case-of-paracoccidioidomycosis-due-to-paracoccidioides-lutzii-presenting-sarcoid-like-form
#14
Luiza Sarmento Tatagiba, Luana Bridi Pivatto, Álvaro A Faccini-Martínez, Paulo Mendes Peçanha, Tânia Regina Grão Velloso, Sarah Santos Gonçalves, Anderson Messias Rodrigues, Zoilo Pires Camargo, Aloísio Falqueto
Paracoccidioidomycosis (PCM) is a fungal disease caused by Paracoccidioides spp., which can cause a systemic granulomatous infection with tegumentary and visceral involvement. Sarcoid-like skin lesions are uncommon and can be misdiagnosed due to similarities with other granulomatous diseases. We report a case of a women presenting with erythematous infiltrated plaques on her face that was treated for leprosy and rosacea with no response and was later diagnosed with PCM, presenting positive serology for Paracoccidioides lutzii...
March 2018: Medical Mycology Case Reports
https://www.readbyqxmd.com/read/29157405/common-clinical-and-imaging-conditions-misdiagnosed-as-multiple-sclerosis-a-current-approach-to-the-differential-diagnosis-of-multiple-sclerosis
#15
REVIEW
Aksel Siva
Multiple Sclerosis is increasing, so is the number of misdiagnosed cases as MS. One major source of misdiagnosis is misinterpretation of nonspecific clinical and imaging findings and misapplication of MS diagnostic criteria resulting in an overdiagnosis of MS! Since nonspecific white matter abnormalities on brain MRI and other imaging findings that may mimic MS, as well as MS-nonspecific lesions that are seen in people with MS, neurologists should be aware of all possibilities and should be able to interpret the clinical and MRI findings well and by their selves! The differential diagnosis of MS includes MS variants and inflammatory astrocytopathies and other atypical inflammatory-demyelinating syndromes, as well as a number of systemic diseases with CNS involvement...
February 2018: Neurologic Clinics
https://www.readbyqxmd.com/read/29155345/the-relationship-between-hematoma-and-pachymeninges-in-an-interdural-hematoma-diagnosis-and-surgical-strategy
#16
Ko-Ting Chen, Hsu-Chen Huang, Ya-Jui Lin, Ming-Houng Chen, Tsung-Che Hsieh
BACKGROUND: The exact location of a hematoma in relation to the pachymeninges contributes to typical radiographic presentations. However, because of the complexity of hematoma evolution and neomembrane formation, an unexpected intraoperative finding may lead to a change of surgical strategy. Besides, the concentration of hemoglobin and its degradation products, the integrity of red blood cells (RBCs), and the infiltration of fibroblasts, polymorphonuclear neutrophils, and macrophages are factors that affect the imaging characteristics on computed tomography (CT) and magnetic resonance imaging (MRI) as the hematoma ages...
November 16, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29154379/proposed-in-training-electrocardiogram-interpretation-competencies-for-undergraduate-and-postgraduate-trainees
#17
Pavel Antiperovitch, Wojciech Zareba, Jonathan S Steinberg, Ljuba Bacharova, Larisa G Tereshchenko, Jeronimo Farre, Kjell Nikus, Takanori Ikeda, Adrian Baranchuk
Despite its importance in everyday clinical practice, the ability of physicians to interpret electrocardiograms (ECGs) is highly variable. ECG patterns are often misdiagnosed, and electrocardiographic emergencies are frequently missed, leading to adverse patient outcomes. Currently, many medical education programs lack an organized curriculum and competency assessment to ensure trainees master this essential skill. ECG patterns that were previously mentioned in literature were organized into groups from A to D based on their clinical importance and distributed among levels of training...
November 8, 2017: Journal of Hospital Medicine: An Official Publication of the Society of Hospital Medicine
https://www.readbyqxmd.com/read/29151245/hearing-impairment-caused-by-mutations-in-two-different-genes-responsible-for-nonsyndromic-and-syndromic-hearing-loss-within-a-single-family
#18
Katarzyna Niepokój, Agnieszka M Rygiel, Piotr Jurczak, Aleksandra A Kujko, Dominika Śniegórska, Justyna Sawicka, Alicja Grabarczyk, Jerzy Bal, Katarzyna Wertheim-Tysarowska
Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic...
November 18, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29146062/three-cases-of-adrenocortical-tumors-mistaken-for-hepatocellular-carcinomas-diagnostic-pitfalls-and-differential-diagnosis
#19
Won Young Park, Hyung Il Seo, Kyung Un Choi, Ahrong Kim, Young Keum Kim, So Jeong Lee, Chang Hun Lee, Gi Yeong Huh, Do Youn Park
Adrenocortical adenomas and carcinomas in other parenchyma are extremely rare, with few cases reported and because of the rarity of these tumors, they occasionally cause problems during diagnosis. Adrenal cortical neoplasms in liver parenchyma can be present in 3 forms, including direct invasion or adhesion to liver parenchyma, tumors arising in adrenohepatic fusion tissue or in ectopic adrenal gland tissue. We report 3 cases of adrenal cortical tumors that were misdiagnosed as hepatocellular carcinoma in the preoperative state...
December 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/29145269/multimodal-ultrasonographic-assessment-of-leiomyosarcoma-of-the-femoral-vein-in-a-patient-misdiagnosed-as-having-deep-vein-thrombosis-a-case-report
#20
Mei Zhang, Feng Yan, Bin Huang, Zhoupeng Wu, Xiaorong Wen
RATIONALE: Primary leiomyosarcoma (LMS) of the vein is a rare tumor that arises from the smooth muscle cells of the vessel wall and has an extremely poor prognosis. This tumor can occur in vessels such as the inferior vena cava, great saphenous vein, femoral vein, iliac vein, popliteal vein, and renal vein; the inferior vena cava is the most common site. LMS of the femoral vein can result in edema and pain in the lower extremity; therefore, it is not easy to be differentiated from deep vein thrombosis (DVT)...
November 2017: Medicine (Baltimore)
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