Case Reports in Medicine最新文献

{"title":"Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder.","authors":"Mirgul Bayanova, Aigerim Abilova, Alisa Nauryzbayeva, Zhibek Turarbekova","doi":"10.1155/2024/5319443","DOIUrl":"10.1155/2024/5319443","url":null,"abstract":"<p><p>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. Determination of the segregation status of the parents of a proband with a rare compound heterozygote in the gene HSD17B4 will help the genetic counselling for the prognosis of Perrault syndrome in the family.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10798831/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139512014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Unusual Case of Hyperhemolysis Syndrome and Delayed Hemolytic Transfusion Reaction due to Anti-Jk(a) and Anti-P1 Antibodies","authors":"H. Montgomery, Matthew X. Luo, Steven Baker, Ming Y Lim","doi":"10.1155/2023/5290115","DOIUrl":"https://doi.org/10.1155/2023/5290115","url":null,"abstract":"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. As part of the workup, the patient received a bone marrow biopsy for suspected hemophagocytic lymphohistiocytosis. Results. This provided a rare biopsy specimen to correlate reticulocytopenia with marked erythroid hyperplasia in the marrow, supporting the hypothesis of reticulocyte destruction as a contributing cause of anemia in these patients. This patient had demonstrable alloantibodies to the Jk(a) and P1 antigens as potential triggers for HS. Conclusions. It is vital that a diagnosis of HS be correctly made in these patients with severe anemia, as blood transfusions generally lead to worsening of their conditions.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139134151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare Double Primary Malignancies: A Pancreatic Gastrointestinal Stromal Tumor Mimicking as a Metastatic Lesion of Myoepithelial Carcinoma of Parotid Gland","authors":"V. Marbun, Indah Jamtani, E. Krisnuhoni, S. S. Panigoro","doi":"10.1155/2023/8274226","DOIUrl":"https://doi.org/10.1155/2023/8274226","url":null,"abstract":"Pancreatic gastrointestinal stromal tumors (PGISTs) are exceptionally rare, accounting for <5% of extra-gastrointestinal stromal tumors (EGISTs) and <1% of malignant pancreatic neoplasms. We present a unique case of concurrent double primary malignancies in a 46-year-old female with a history of recurrent myoepithelial carcinoma of the parotid gland, managed through surgical resection and adjuvant therapy. She presented with an enlarging abdominal mass, initially suggestive of pancreatic metastasis. Immunohistochemical analysis revealed positive staining for smooth-muscle actin (SMA) and CD34 in both parotid and pancreatic tissues. Importantly, CD117 expression was confined to the pancreatic tissue, confirming the diagnosis of PGIST rather than metastasis. Subsequently, a splenic-sparing distal pancreatectomy was performed, followed by immediate imatinib therapy. This case underscores the potential for the coexistence of rare primary malignancies with unique histopathological characteristics and organ involvement. When encountering a newly developed lesion in a distant organ, surgeons must consider the possibility of metastasis to guide therapeutic decision-making. Early diagnosis and appropriate intervention are paramount, particularly in the case of PGIST, given its infrequent presentation and clinical complexities.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139155922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Statin-Induced Necrotizing Autoimmune Myopathy: Case Report of a Patient under Chronic Treatment","authors":"Ilaria Anna Bellofatto, Marta Sessarego, Amedeo Tirandi, Chiara Olivero, Cosimo Sgura, Elia Maioli, Aurora Gavoci, Elisa Schiavetta, Federica Frè, Benedetta Saccomanno, F. Zaottini, Riccardo Picasso, Chiara Fiorillo, L. Liberale, Luciano Carlo Ottonello, N. Bardi, F. Montecucco","doi":"10.1155/2023/6550473","DOIUrl":"https://doi.org/10.1155/2023/6550473","url":null,"abstract":"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. The diagnosis is supported by the presence of antibodies HMGCR, which allows the differentiation from other forms of necrotizing autoimmune myopathies. Symptoms usually progress even after statin discontinuation and can determine severe muscle damage. Summary. We describe the case of a 77-year-old man who developed SINAM after 5 years of statin use. He suffered from muscle functional impairment mainly involving proximal lower limb muscles which progressed to the point that he almost became bedridden. Initial treatment with prednisone alone was not effective, and he required a combination therapy with steroids, methotrexate, and intravenous immunoglobulins. After 5 months of therapy and rehabilitation, he showed complete laboratory response and muscle strength recovery. Conclusion. Recognizing SINAM is paramount in order to promptly start treatment and avoid permanent muscle damage. Using a combination therapy from the beginning could contribute to a better outcome. Prompt statin cessation, categorization of the muscle disease by autoantibody testing, imaging, and histology, exclusion of malignancy, and anti-inflammatory therapy with corticosteroids, antimetabolites, immunoglobulins, and in some cases rituximab are currently accepted approaches to this entity.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138967810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"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.","authors":"Shahla Chaichian, Mohanna Khandan, Samaneh Rokhgireh, Sahar Hosseini, Roya Derakhshan","doi":"10.1155/2023/2165226","DOIUrl":"10.1155/2023/2165226","url":null,"abstract":"<p><p>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. Clinicians should consider spontaneous autoamputation of ovary as a potential differential diagnosis in women presenting with adnexal masses, even if there is no prior history of abdominal pain.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10730245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138798454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"COVID-19, A New Possible Mimicker of Interstitial Lung Disease Related to Primary Sjögren’s Syndrome","authors":"Alessia Laneri, S. Cerri, G. Della Casa, A. Moretti, A. Manfredi, M. Sebastiani, Enrico Clini, Carlo Salvarani","doi":"10.1155/2023/9915553","DOIUrl":"https://doi.org/10.1155/2023/9915553","url":null,"abstract":"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. Three months later, follow-up chest high-resolution computed tomography (HRCT) showed ground glass opacity (GGO) and interlobular interstitial thickening. Pulmonary function tests (PFTs) showed slight restrictive deficit and mild reduction in diffusion lung of carbon monoxide (DLCO). The patient complained of asthenia and exertional dyspnoea. A multidisciplinary discussion including rheumatologist, pulmonologist, and thoracic radiologist did not allow a definitive differential diagnosis between COVID-19 persisting abnormalities and a previous or new-onset pSS-ILD. A “wait and see” approach was decided, monitoring clinical conditions, PFTs, and chest HRCT over time. Only 2 years after the hospitalization, improvement of clinical symptoms was reported; PFT also improved, and HRCT showed almost complete resolution of GGO and interlobular interstitial thickening, confirming the diagnostic hypothesis of long-COVID lung manifestations. Discussion. In the above-reported case report, 3 differential diagnoses were possible: a COVID-19-related ILD, a preexisting pSS-ILD, or a new-onset pSS-ILD triggered by COVID-19. Regardless of the diagnosis, the persistence of clinical and PFT alterations, suggested a chronic disease but, surprisingly, clinical and radiologic manifestations disappeared 2 years later.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138585951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Organized Chronic Subdural Hematoma Mimicking Acute Epidural Hematoma.","authors":"Jun Cao, Zhichun Wang, Cegang Liu, Jun Shen, Jincheng Fang","doi":"10.1155/2023/6645752","DOIUrl":"10.1155/2023/6645752","url":null,"abstract":"<p><strong>Background: </strong>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. <i>Case Description</i>. A 70-year-old male patient was admitted to the hospital due to headache and dizziness after head trauma. Emergency head CT reported \"left frontotemporal parietal epidural hematoma.\" Because the head CT showed that the hematoma occupying effect was obvious, an emergency \"intracranial hematoma evacuation\" was performed. After opening the skull during the operation, no epidural hematoma was seen. Upon incision of the dura mater, the outer membrane of organized chronic subdural hematoma was found. When the outer membrane was cut open, a large amount of reddish-brown silt-like materials was found in the capsule cavity. The inner membrane was not forcibly removed. Postoperative head CT showed that the organized chronic subdural hematoma was basically cleared.</p><p><strong>Conclusion: </strong>The early symptoms of organized chronic subdural hematoma are atypical, with insidious onset and easy misdiagnosis. By carefully inquiring about the medical history and carefully reading the head CT, such misdiagnosis can be avoided. Craniotomy is currently an important treatment option for organized chronic subdural hematoma.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10695690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138486754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytomegalovirus Infection in Patient with Clear Cell Renal Cell Carcinoma","authors":"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","doi":"10.1155/2023/5560673","DOIUrl":"https://doi.org/10.1155/2023/5560673","url":null,"abstract":"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. The patient was hospitalized for 26 days and admitted to the intensive care unit (ICU) due to shortness of breath, decreased oxygen saturation, and irregular breathing. Cytomegalovirus polymerase chain reaction (PCR) test results were positive. Given the high prevalence of CMV infection in developing countries, it is likely that the patient had a reactivation of CMV. As such, the patient was subsequently treated with ganciclovir for 14 days and showed improvement in symptoms such as shortness of breath, cough, fever, and increased oxygen saturation. Following recovery, the patient received maintenance therapy with oral valganciclovir for 7 days. No further symptoms appeared during subsequent cancer treatments. Conclusion. Cancer patients who are undergoing treatment are at a higher risk for developing opportunistic infections, which can result in morbidity and mortality. Therefore, healthcare professionals should be aware of the possibility of CMV infection in cancer patients and be prepared to diagnose and treat the infection, particularly in areas where the prevalence of CMV infection is high.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136282434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inferior Vena Cava Thrombosis in a Patient with Factor V Leiden Syndrome Presenting with Scrotal Pain.","authors":"Helmy Elhag,&nbsp;Fadl Al-Tairy,&nbsp;Mohammed Shakeeb Dahdaha,&nbsp;Ahmed Shaeshaa,&nbsp;Yavuz Yigit","doi":"10.1155/2023/6234371","DOIUrl":"https://doi.org/10.1155/2023/6234371","url":null,"abstract":"<p><p>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 <i>µ</i>mol/L, and a white blood cell count of 10 × 10⁹/L with a CRP level of 5 mg/L. Urine analysis was positive for blood. Doppler ultrasound of both legs showed deep vein thrombosis extending from the external iliac veins to the distal veins of both legs. Further investigation with computed tomography of the abdomen revealed a large thrombus in the distal vena cava extending to the renal artery and both external and internal iliac veins. The patient was diagnosed with Factor V Leiden syndrome based on genetic testing, which revealed a heterozygous mutation in the F5 gene. He was successfully treated with low molecular weight heparin and warfarin, and after five days of hospitalization, he was discharged with warfarin for long-term anticoagulation. This case report emphasizes the importance of considering IVC thrombosis in patients with a constellation of symptoms, including scrotal pain, and the role of genetic testing in identifying underlying hypercoagulable states.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41107964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of Benralizumab in Eosinophilic Immune Dysfunctions: A Case Report-Based Literature Review.","authors":"Margarida Gomes,&nbsp;Ana Mendes,&nbsp;Filipa Ferreira,&nbsp;Joana Branco,&nbsp;Fernanda S Tonin,&nbsp;M Elisa Pedro","doi":"10.1155/2023/8832242","DOIUrl":"10.1155/2023/8832242","url":null,"abstract":"<p><p>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. He also had a past medical history of eosinophilic gastroenteritis/duodenitis (eosinophilia counts >50 cells/high-power field HPF). The use of multiple courses of corticosteroid therapy failed to completely control these conditions. In October 2019, after starting benralizumab (an antibody directed against the alpha chain of the IL-5 cytokine receptor) as add-on treatment for severe eosinophilic asthma, important clinical improvements were reported both on the respiratory (no asthma exacerbations) and gastrointestinal systems (eosinophilia count 0 cells/HPF). Patients' quality of life also increased. Since June 2020, systemic corticosteroid therapy was reduced without worsening of gastrointestinal symptoms or eosinophilic inflammation. This case warns of the importance of early recognition and appropriate individualized treatment of eosinophilic immune dysfunctions and suggests the conduction of further larger studies on the use of benralizumab in gastrointestinal syndromes aiming at better understanding its relying mechanisms of action in the intestinal mucosa.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10151146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9465783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}