journal
https://read.qxmd.com/read/38606204/a-case-report-of-dextrocardia-with-situs-inversus-a-rare-condition-and-its-clinical-importance
#1
Girma Deshimo, Haile Abebe, Getiye Damtew, Enguday Demeke, Seife Feleke
Situs inversus totalis (SIT) is a rare medical condition characterized by a complete mirror-image reversal of the normal positioning of the internal organs. Aristotle initially described situs inversus in animals, while Fabricius first characterized it in humans. Although the specific cause is uncertain, there is evidence of autosomal recessive and X-linked inheritance. Before seeking treatment for an unrelated ailment, many people with SIT are unaware of their distinct anatomy, as in our case. The presented case is a 30-year-old female patient from Central Ethiopia, presented to Hakim Gizaw Teaching Hospital outpatient department of medicine with the complaint of right-sided anterior chest pain for five days...
2024: Case Reports in Medicine
https://read.qxmd.com/read/38585685/immunotherapy-induced-overlap-syndrome-myositis-myasthenia-gravis-and-myocarditis-a-case-series
#2
Nikhil Aggarwal, Diletta Bianchini, Rosemeen Parkar, Jennifer Turner
Immune checkpoint inhibitors (ICI) are monoclonal antibodies that target immune checkpoint inhibitory receptors. They have revolutionised cancer treatment but can be associated with a wide range of adverse side effects. Rarely, they can be associated with the triad of myositis, myasthenia gravis, and myocarditis or overlap syndrome. Prompt recognition and early intervention are needed to treat these potentially life-threatening conditions. We report a case series of patients with ICI-related overlap syndrome, including the first with avelumab, and discuss the current management guidelines...
2024: Case Reports in Medicine
https://read.qxmd.com/read/38510534/misleading-rare-case-of-idiopathic-hypertrophic-pachymeningitis
#3
Ahmad Rezaee Azandaryani, Amir Mohammad Salehi
Idiopathic hypertrophic pachymeningitis (IHP) is a rare disease with diffuse thickening of the dura mater that has no specific clinical symptoms and manifestations and it causes neurosurgeons to misdiagnose. A 4-year-old girl presented at the emergency room of our hospital with speech difficulty and severe headache. Head computed tomography scans (CT scan) on admission revealed a large fluid collection over the right temporoparietal region with mass effect, and the neurosurgeon drained it with the initial diagnosis of subdural hematoma...
2024: Case Reports in Medicine
https://read.qxmd.com/read/38380356/blindness-in-right-eyes-after-enema-a-case-of-klebsiella-pneumoniae-related-invasive-liver-abscess-syndrome-with-endophthalmitis-caused-blindness-as-the-first-symptom
#4
Qi Jin, Xinrui Zhang, Huifen Yang, Bo Zhao, Yubao Wang
We report a case of Klebsiella pneumoniae invasive liver abscess syndrome (KPILAS) with endophthalmitis-caused blindness as the first symptom after enema. The patient had diabetes, and his blood glucose was poorly controlled. She developed hematuria after four enemas for cosmetic purposes and later became blind. The eye discharge was cultured, which revealed a Klebsiella pneumoniae infection. B ultrasound did not show liver lesions, but computed tomography exhibited abscesses in the right lobe of the liver...
2024: Case Reports in Medicine
https://read.qxmd.com/read/38249302/delayed-diagnosis-of-perrault-syndrome-a-rare-genetic-disorder
#5
Mirgul Bayanova, Aigerim Abilova, Alisa Nauryzbayeva, Zhibek Turarbekova
Perrault syndrome (PRLTS) is a rare autosomal recessive disorder which is associated with pathogenic variants in HSD17B4, HARS2, CLPP, LARS2, GGPS1, RMND1, TWNK, ERAL1, and PRORP genes. The disease is characterized by sensorineural hearing loss, sometimes with neurological signs, including progressive sensory and motor peripheral neuropathy, cerebellar ataxia, mild mental retardation, and ovarian dysgenesis in females. In this article, we report a case of a child diagnosed with spastic diplegic cerebral palsy...
2024: Case Reports in Medicine
https://read.qxmd.com/read/38188902/an-unusual-case-of-hyperhemolysis-syndrome-and-delayed-hemolytic-transfusion-reaction-due-to-anti-jk-a-and-anti-p1-antibodies
#6
Hunter Montgomery, Matthew X Luo, Steven Baker, Ming Y Lim
BACKGROUND: Hyperhemolysis syndrome (HS) is a severe hemolytic transfusion reaction that can cause hemoglobin and hematocrit levels to drop below pretransfusion levels, leading to severe anemia. HS most commonly occurs in patients with a pre-existing hemoglobinopathy such as sickle cell disease (SCD) or beta-thalassemia. METHODS: We report a case of HS, occurring in the absence of hemoglobinopathy, making the diagnosis challenging. The patient reported was also affected by a CIC-rearranged sarcoma...
2023: Case Reports in Medicine
https://read.qxmd.com/read/38145276/statin-induced-necrotizing-autoimmune-myopathy-case-report-of-a-patient-under-chronic-treatment
#7
Ilaria Anna Bellofatto, Marta Sessarego, Amedeo Tirandi, Chiara Olivero, Cosimo Sgura, Elia Maioli, Aurora Gavoci, Elisa Schiavetta, Federica Frè, Benedetta Saccomanno, Federico Zaottini, Riccardo Picasso, Chiara Fiorillo, Luca Liberale, Luciano Carlo Ottonello, Nicholas Bardi, Fabrizio Montecucco
INTRODUCTION: 3-Hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) inhibitors are widely used worldwide to treat dyslipidaemia and prevent cardiovascular events. Statins can cause a wide variety of muscle injuries ranging from myalgia to severe rhabdomyolysis. In most cases, these symptoms are mild and self-limiting and do not require specific treatment besides drug withdrawal. Statin-induced autoimmune necrotizing myopathy (SINAM) is a rare but potentially fatal complication, characterized by the subacute onset of progressive proximal muscle weakness and considerably high creatine phosphokinase (CK) levels in patients exposed to statins...
2023: Case Reports in Medicine
https://read.qxmd.com/read/38116295/a-case-of-spontaneous-autoamputation-of-ovary-in-a-46-year-old-woman-an-uncommon-presentation-painless-ovarian-torsion-with-unique-diagnostic-and-therapeutic-challenges
#8
Shahla Chaichian, Mohanna Khandan, Samaneh Rokhgireh, Sahar Hosseini, Roya Derakhshan
This article presents a case of spontaneous autoamputation of ovary in a 46-year-old nulligravid woman with a history of rheumatoid arthritis and hypertension, who presented with secondary amenorrhea and white vaginal discharge. Despite an initial diagnosis of dermoid cyst based on ultrasound findings, subsequent laparoscopic surgery revealed a necrotized oval-shaped mass in the cul-de-sac, which was identified as the right ovary that had undergone torsion and autoamputation. This case highlights the diagnostic and therapeutic challenges associated with this uncommon presentation, which may be easily misdiagnosed...
2023: Case Reports in Medicine
https://read.qxmd.com/read/38107625/covid-19-a-new-possible-mimicker-of-interstitial-lung-disease-related-to-primary-sj%C3%A3-gren-s-syndrome
#9
Alessia Laneri, Stefania Cerri, Giovanni Della Casa, Antonio Moretti, Andreina Manfredi, Marco Sebastiani, Enrico Clini, Carlo Salvarani
Introduction . Acute exacerbation of interstitial lung disease (ILD) and COVID-19 pneumonia show many similarities, but also COVID-19 sequelae, mainly when fibrotic features are present, can be difficult to distinguish from chronic ILD observed in connective tissue diseases. Case Report . In 2018, a 52-year-old woman, was diagnosed with primary Sjogren's syndrome (pSS). The patient did not show respiratory symptoms, and a chest X-ray was normal. During March 2020, the patient was hospitalized for acute respiratory failure related to COVID-19 pneumonia...
2023: Case Reports in Medicine
https://read.qxmd.com/read/38053805/organized-chronic-subdural-hematoma-mimicking-acute-epidural-hematoma
#10
Jun Cao, Zhichun Wang, Cegang Liu, Jun Shen, Jincheng Fang
BACKGROUND: Chronic subdural hematoma is a common disease in neurosurgery, but organized chronic subdural hematoma is rarely seen clinically. This article reports a case of misdiagnosis of organized chronic subdural hematoma as acute epidural hematoma. Through literature review, the causes of misdiagnosis and the treatment methods of organized chronic subdural hematoma are discussed. Case Description . A 70-year-old male patient was admitted to the hospital due to headache and dizziness after head trauma...
2023: Case Reports in Medicine
https://read.qxmd.com/read/38023618/cytomegalovirus-infection-in-patient-with-clear-cell-renal-cell-carcinoma
#11
Ikhwan Rinaldi, Abdul Muthalib, Januar Widodo Sutandar, Hendro Adi Kuncoro, Bambang Irawan Harsono, Nelly Susanto, Tjondro Setiawan, Kevin Winston, Idham Rafly Dewantara, Ihya Fakhrurizal Amin, Yuli Maulidiya Shufiyani
INTRODUCTION: Cytomegalovirus (CMV) infection is a widespread condition that can affect individuals of all ages. Most cases of CMV infection are mild and resolve on their own. However, in immunocompromised individuals, such as post-transplant patients or those with cancer, severe infections can occur. While there have been several studies on CMV infection in post-transplant patients, there is limited literature on CMV infection in cancer, particularly in kidney cancer. Case Report . In this case report, we present the case of a 61-year-old man with clear cell renal cell carcinoma who underwent targeted therapy with the receptor tyrosine kinase (RTK) inhibitor lenvatinib and the mammalian target of rapamycin (mTOR) inhibitor everolimus...
2023: Case Reports in Medicine
https://read.qxmd.com/read/37790840/inferior-vena-cava-thrombosis-in-a-patient-with-factor-v-leiden-syndrome-presenting-with-scrotal-pain
#12
Helmy Elhag, Fadl Al-Tairy, Mohammed Shakeeb Dahdaha, Ahmed Shaeshaa, Yavuz Yigit
Thrombosis in the inferior vena cava (IVC) is a rare but serious condition that can lead to significant morbidity and mortality. We present a case report of a 39-year-old male who presented to the emergency department with right flank pain that had progressed to severe back pain, bilateral flank pain, scrotal pain, and leg pain over the course of two days. The pain was severe enough to affect his daily activities. Laboratory investigations revealed a D-dimer level of 17 ng/mL, creatinine level of 110  µ mol/L, and a white blood cell count of 10 × 109 /L with a CRP level of 5 mg/L...
2023: Case Reports in Medicine
https://read.qxmd.com/read/37601700/-extreme-nephroptosis-a-kidney-in-the-inguinal-hernia
#13
Dmytro Shchukin, Vladyslav Demchenko, Andrii Arkatov, Roman Stetsyshyn, Gennadii Khareba, Vladyslav Bielov
We present an extremely rare case of renal ptosis from the normal orthotopic position into the cavity of inguinal hernia in a 93-year-old male patient. The following clinical case was accompanied by renal insufficiency, which was associated with the obstruction of the right ureter in the hernial sac and the stenosis of the left renal artery. The differential diagnosis between nephroptosis and dystopic kidney was based on MDCT scan images, which demonstrated the length of the right renal artery to be more than 20 cm...
2023: Case Reports in Medicine
https://read.qxmd.com/read/37564991/recurrent-strokes-in-a-woman-with-a-history-of-thrombotic-thrombocytopenic-purpura
#14
Ijele Adimora, Bingnan Zhang, Modupe Idowu
Thrombotic thrombocytopenic purpura (TTP) is a microangiopathy characterized by mechanical hemolytic anemia, resulting in end-organ damage. We describe a case of TTP which presented as an ischemic stroke. The patient presented with stroke as the primary manifestation of TTP despite a normal platelet count and mildly elevated lactate dehydrogenase level (LDH). The patient underwent two transfusions of fresh frozen plasma (FFP), and ADAMTS13 levels confirmed the diagnosis of TTP after discharge. This case demonstrates the importance of maintaining a high index of suspicion for TTP in the setting of normal laboratory values and reveals the many atypical manifestations of TTP...
2023: Case Reports in Medicine
https://read.qxmd.com/read/37520310/association-of-cyp2c9%C3%A2-3-and-cyp2c8%C3%A2-3-non-functional-alleles-with-ibuprofen-induced-upper-gastrointestinal-toxicity-in-a-saudi-patient
#15
Amina M Bagher
Ibuprofen is a non-steroidal anti-inflammatory drug (NSAID) widely used to alleviate pain and inflammation. Although it is generally considered safe, common adverse drug reactions of ibuprofen include stomach pain, nausea, and heartburn. It can also cause gastrointestinal (GI) bleeding, especially in individuals with a history of GI ulcers or bleeding disorders. Ibuprofen is predominantly metabolized by the cytochrome P450 (CYP) enzymes CYP2C9 and CYP2C8. Individuals carrying the CYP2C9 ∗ 3 or CYP2C8 ∗ 3 non-functional alleles have reduced enzyme activities resulting in elevated ibuprofen plasma concentrations and half-life...
2023: Case Reports in Medicine
https://read.qxmd.com/read/37408702/report-of-a-complicated-case-of-couvelaire-uterus
#16
Hamideh Parsapour, Neda Shafie, Amir Mohammad Salehi, Zeinab Assareh
Couvelaire uterus (CU) is a rare complication in the life-threatening placental abruption (PA) that consists of a state of blood infiltration of the uterine myometrium and serosa. The incidence is around 1% and the treatment of choice is obstetric hysterectomy, however, in some cases, close monitoring and timely decision-making can prevent hysterectomy. Herein, we present a rare and serious case of CU with uterus preservation in a young multiparous with a high-risk pregnancy.
2023: Case Reports in Medicine
https://read.qxmd.com/read/37383046/splenic-lymphangioma-mimicking-lymphomatous-involvement-a-case-report-with-review-of-the-literature
#17
Neda Soleimani, Fatemeh Pouraminaee, Mohammad Hossein Anbardar, Ali Bahador, Benyamin Rahimi, Sahand Mohammadzadeh, Fatemeh Aghakhaninejad, Mohammad Farahmand, Mahsa Hasani
Lymphangioma is a benign malformation of lymphatic vessels usually found in the head and neck areas or axilla. They may involve visceral organs with a lower percentage. Splenic lymphangioma is a rare tumor. This disease is often seen in children but may be diagnosed incidentally in adults. Most patients are asymptomatic, but in large and multifocal lesions, the patient may have some nonspecific symptoms such as abdominal pain, abdominal distention, nausea, vomiting, and loss of appetite. Physical examination may show no specific findings or detect palpable masses...
2023: Case Reports in Medicine
https://read.qxmd.com/read/37303748/the-first-registered-type-0-spinal-muscular-atrophy-patient-in-latvia-call-for-change-in-prenatal-diagnostic-procedures
#18
Tīna Luīze Čupāne, Mikus Dīriks, Gita Tauriņa, Liene Korņejeva, Linda Gailīte, Ieva Mālniece, Madara Auzenbaha
This case report presents the first registered patient in Latvia with type 0 spinal muscular atrophy (SMA). During the first-trimester ultrasonography of the unborn patient, an increased thickness of the nuchal fold was detected. The mother reported decreased foetal movements during the pregnancy. After the boy was born, his general condition was extremely severe. The clinical signs indicated a suspected neuromuscular disorder. A precise diagnosis, type 0 SMA, was determined 7 days after birth through a newborn pilot-screening for SMA, which was conducted for all newborns whose parents consented to participate...
2023: Case Reports in Medicine
https://read.qxmd.com/read/37153356/-dnah11-and-a-novel-genetic-variant-associated-with-situs-inversus-a-case-report-and-review-of-the-literature
#19
Fatemeh Sodeifian, Noosha Samieefar, Sepideh Shahkarami, Elham Rayzan, Simin Seyedpour, Meino Rohlfs, Christoph Klein, Delara Babaie, Nima Rezaei
BACKGROUND: Primary ciliary dyskinesia (PCD), also known as the immotile-cilia syndrome, is a clinically and genetically heterogeneous syndrome. Improper function of the cilia causes impaired mucociliary clearance. Neonatal respiratory distress, rhinosinusitis, recurrent chest infections, wet cough, and otitis media are respiratory presentations of this disease. It could also manifest as infertility in males as well as laterality defects in both sexes, such as situs abnormalities (Kartagener syndrome)...
2023: Case Reports in Medicine
https://read.qxmd.com/read/37138643/the-role-of-benralizumab-in-eosinophilic-immune-dysfunctions-a-case-report-based-literature-review
#20
Margarida Gomes, Ana Mendes, Filipa Ferreira, Joana Branco, Fernanda S Tonin, M Elisa Pedro
In the past years, the knowledge of eosinophils playing a primary pathophysiologic role in several associated conditions has led to the development of biologics targeting therapies aiming at normalizing the immune response, reducing chronic inflammation, and preventing tissue damage. To better illustrate the potential relationship between different eosinophilic immune dysfunctions and the effects of biological therapies in this scenario, here, we present a case of a 63-year-old male first referred to our department in 2018 with a diagnosis of asthma, polyposis, and rhinosinusitis and presenting a suspicion of nonsteroidal anti-inflammatory drugs' allergy...
2023: Case Reports in Medicine
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