SAGE Open Medical Case Reports最新文献

{"title":"Reassessing mirtazapine and akathisia: A case report on its efficacy in treating severe, treatment-resistant akathisia and a review of the evidence.","authors":"Madeline Chidiac, Bushra Elhusein, Niman Gajebasia","doi":"10.1177/2050313X241299947","DOIUrl":"https://doi.org/10.1177/2050313X241299947","url":null,"abstract":"<p><p>Antipsychotic-induced akathisia is a distressing movement disorder marked by intense internal restlessness and an urge to move. This report discusses a 44-year-old man with a diagnosis of schizophrenia who developed severe, treatment-resistant akathisia after taking haloperidol, a first-generation antipsychotic. Standard treatments for antipsychotic-induced akathisia, including benzodiazepines (Clonazepam) and benztropine, failed to alleviate the patient's persistent symptoms, causing considerable distress. However, the introduction of mirtazapine at a low dose of 15 mg led to substantial improvement, as indicated by a gradual reduction in the Barnes Akathisia Rating Scale score from 8 to 0 and improvements in mood, mobility, and daily activity participation. This case highlights the potential efficacy of mirtazapine in treating severe, resistant akathisia, adding to its established use in antipsychotic-induced akathisia management and contributing to the limited literature on its application in patients unresponsive to other conventional treatments.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241299947"},"PeriodicalIF":0.6,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11605738/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142772097","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":"Malignant granular cell tumour of floor of mouth (non-neural in origin) - A rare case report and review of literature.","authors":"Anju Khairwa, Nadeem Tanveer","doi":"10.1177/2050313X241302255","DOIUrl":"https://doi.org/10.1177/2050313X241302255","url":null,"abstract":"<p><p>Five cases of non-neuronal granular cell tumours of the oral cavity are documented in the literature. Additionally, one case of a non-neuronal granular cell tumour with features of malignancy was described. A malignant granular cell tumour is a rare neoplasm and counterpart of a benign granular cell tumour. The cell of origin of the granular cell tumour was reported from the Schwann cell. Some granular cells originated from non-neural components and were negative for immunohistochemistry S100. Immunohistochemistry is required to confirm further and categorize ulcero-proliferative and erythematous polypoidal oral cavity lesions. These lesions can mimic squamous cell carcinoma, mucoepidermoid carcinoma and pyogenic granuloma in morphology. We are presenting a rare case of malignant granular cell tumour of non-neuronal origin on the floor of the mouth. To our knowledge, it is the first case of a malignant non-neuronal granular cell tumour.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241302255"},"PeriodicalIF":0.6,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11605744/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142772094","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":"Unveiling a de novo <i>SYNGAP1</i> variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy - A case report.","authors":"Norma E de León Ojeda, Fridha V Villalpando-Vargas, Fabrizio A Mortola, Juan C Barrera de Leon, Tania P Sánchez-Murguía, Jonathan A Cisneros-Orozco, Alioth Guerrero-Aranda","doi":"10.1177/2050313X241302964","DOIUrl":"10.1177/2050313X241302964","url":null,"abstract":"<p><p>Developmental and epileptic encephalopathies (DEEs), such as <i>SYNGAP1</i>-related DEE, are marked by severe developmental delays and pharmaco-resistant seizures due to specific genetic variants. This case report focuses on a 9-year-old male with a de novo <i>SYNGAP1</i> variant (c.1267del, p.Tyr423Metfs*17), illustrating the diagnostic and treatment challenges. Initially experiencing developmental delays and later, misdiagnosed tics, he was diagnosed with epilepsy with eyelid myoclonia at seven. His case includes key <i>SYNGAP1</i> encephalopathy symptoms: intellectual disability, behavioral issues, and generalized epilepsy resistant to antiseizure medication. The identification of a specific variant adds to our knowledge, suggesting the necessity of considering <i>SYNGAP1</i>-related DEE for unexplained neurodevelopmental delays and seizures. This case underlines the need for a personalized treatment approach focusing on quality of life and symptom management, advancing our understanding and treatment practices for genetic developmental and epileptic encephalopathy.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241302964"},"PeriodicalIF":0.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11603479/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142751471","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":"Case report of Ebstein's anomaly in a young female.","authors":"Rediet Dessalegne, Yoseph Bekele, Selamawit Getachew, Mekdelawit Birhanu","doi":"10.1177/2050313X241302682","DOIUrl":"10.1177/2050313X241302682","url":null,"abstract":"<p><p>Ebstein's anomaly, also known as Ebstein's malformation, is a congenital heart defect that occurs in about 0.005% of live births and accounts for 0.3-0.6% of all congenital heart disease. It is due to delamination failure at embryologic state, or displacement of the leaflets from the ventricular myocardium. In people with Ebstein's abnormality, the tricuspid valve does not close properly, leading to regurgitation. Here is the case report of a 24-year-old female patient who was diagnosed with Ebstein's anomaly 5 years back and had been on follow-up. However, she missed appointments and discontinued the medication for 3 months. She presented with shortness of breath for 5 days, which occurred at rest, and generalized body weakness. Since she was in critical condition, she was admitted to the intensive care unit of the hospital. Subsequently, baseline and diagnostic investigations were done. The health care team initiated immediate treatment, and all available treatments were administered, and the patient's condition improved. In this report, the first presentation of the woman was during adulthood and it was with heart failure even though most patients with Ebstein's anomaly present during the early age of their life and with arrhythmia. Therefore, the main aim of this case report is to show the atypical presentation of Ebstein's anomaly.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241302682"},"PeriodicalIF":0.6,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587174/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717032","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 positive role of physical therapy and appropriate technology in the reduction of bone mineral density loss associated with complete spinal cord injury: A case report.","authors":"Marcie Kern, Shuo-Hsiu Chang","doi":"10.1177/2050313X241301870","DOIUrl":"10.1177/2050313X241301870","url":null,"abstract":"<p><p>While no single method effectively prevents bone loss after spinal cord injury (SCI), consistent participation in activity-based therapies can help reduce it in individuals with chronic complete SCI. This case report presents the results of multiple dual-energy X-ray absorptiometry scans conducted over 14 years, highlighting changes in bone mineral density (BMD). The individual studied maintained a healthy lifestyle, preventing secondary complications associated with SCI. The focus is on the participant's engagement in various therapies, including functional electrical stimulation, lower-extremity cycling, and walking with a robotic exoskeleton. Remarkably, the findings indicate that, rather than losing BMD, this individual not only maintained but, in some areas, also even increased their BMD in the lower extremities. This observation contradicts the expected trend for individuals with chronic complete SCI, suggesting that activity-based therapies may yield positive outcomes.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241301870"},"PeriodicalIF":0.6,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587176/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717035","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":"May-Hegglin anomaly associated nephropathy: Case series.","authors":"Matthew D Nguyen, Gayathri Dileep, Marrey Quizon, Vu Nguyen, Arif Demerci, Ramy Hanna","doi":"10.1177/2050313X241302013","DOIUrl":"10.1177/2050313X241302013","url":null,"abstract":"<p><p>May-Hegglin anomaly (MHA) is a rare autosomal dominant disease associated with a mutation in the MYH-9 gene. It is characterized by macrothrombocytopenia and neutrophils with abnormal cytoplasmic inclusions. Clinical features of this disease include hearing loss, early cataracts, and renal failure. We present two interesting cases of renal injury attributed to MHA. The first is a 52-year-old Hispanic female with MHA-associated nephropathy and thrombocytopenia complicated by Stage 3 chronic kidney disease (CKD) and hypothyroidism. She was found to have a pathogenic MYH-9 heterozygous mutation with associated clinical characteristics. Due to her thrombocytopenia from MHA, patient is not a candidate for kidney biopsy. She has been treated with SGLT-2 inhibitors, Angiotensin Receptor Blockers (ARBs) for managing her Stage 3b CKD and Synthroid^® for hypothyroidism. Despite these treatments, she continues to have low platelet counts, proteinuria, and progressive CKD. Our second case highlights a 39-year-old white female with MHA associated with focal segmental glomerulosclerosis diagnosed at the age of 15 on renal biopsy. She also has thrombocytopenia and mixed connective tissue disease with rheumatoid arthritis and systemic lupus erythematosus clinical characteristics. She is currently on a regimen of methotrexate, Xeljanz, and IVIG for her rheumatological diseases. Her kidney function has remained stable on Angiotensin Converting Enzyme Inhibitors (ACEi) with hydrochlorothiazide and as needed loop diuretics for edema. These cases illustrate the challenges of diagnosing and managing renal complications associated with MHA due to the MYH-9 gene mutation. Chronic thrombocytopenia in both patients restricts the use of invasive diagnostic procedures, such as biopsies, which are critical for confirming the relationship between nephropathy and MHA, and for guiding further treatment. As such, these cases stress the importance of genetic testing as a key tool in diagnosis and emphasize the difficulties in managing patients with suspected MHA-associated nephropathy and thrombocytopenia.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241302013"},"PeriodicalIF":0.6,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587175/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717033","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":"Rare case pulmonary aspergillosis in a patient with acute myeloid leukemia at King Abdulaziz University Hospital, Jeddah, Saudi Arabia: A case report.","authors":"Aiah M Khateb, Ahmed S Barefah, Salem M Bahashwan, Osman O Radhwi, Ghofran A Ageely, Osama Safdar, Esam I Azhar","doi":"10.1177/2050313X241302961","DOIUrl":"10.1177/2050313X241302961","url":null,"abstract":"<p><p>Invasive fungal infections are considered a threat to hematological malignancy patients (HM). We report here a rare case of pulmonary aspergillosis in a patient diagnosed with leukemia at King Abdulaziz University Hospital. The patient received three cycles of chemotherapy and presented with febrile neutropenia and his fungal culture was repeatedly negative while signs of aspergillosis in a computed topography (CT) scan were evident. The patient was successfully recovered after 6 weeks of voriconazole treatment.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241302961"},"PeriodicalIF":0.6,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587182/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717034","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":"Novel <i>CNTNAP1</i> gene variant identified in congenital hypomyelinating neuropathy-3: A case report.","authors":"Helen Wang, Dillon Chen, Miguel Del Campo, Pamela Del Rosario, Pei-Shan Lee","doi":"10.1177/2050313X241302236","DOIUrl":"10.1177/2050313X241302236","url":null,"abstract":"<p><p>Contactin-associated protein (<i>CNTNAP1</i>) gene mutations have been reported in cases of congenital hypomyelinating neuropathy (CHN), a rare hereditary neuropathy. We present a case of a term male infant born at 39 weeks 4 days with respiratory distress, impaired swallow function, and hypotonia. Neurological workup for structural, autoimmune, neuromuscular, and metabolic etiologies was negative and whole exome sequencing revealed a novel mutation in the <i>CNTNAP1</i> gene, consistent with a diagnosis of CHN3. While CHN3 cases with mutations in the same domain have required long-term respiratory support, our patient, now 2 years old, has not required respiratory support since his initial birth hospitalization. Neurologically, he now has central hypotonia with hypertonia in the bilateral extremities and global developmental delay. This case adds to a growing number of identified pathological <i>CNTNAP1</i> mutations and their heterogenous clinical phenotypes and highlights a rare neurological etiology for respiratory distress in newborns.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241302236"},"PeriodicalIF":0.6,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11585046/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142710709","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":"Long-term sildenafil therapy for pulmonary veno-occlusive disease in association with melphalan therapy for multiple myeloma: A case report.","authors":"Christian Hesse, Gabor Kovacs, Stefan Scheidl, Horst Olschewski","doi":"10.1177/2050313X241292529","DOIUrl":"10.1177/2050313X241292529","url":null,"abstract":"<p><p>Pulmonary veno-occlusive disease has a significantly worse prognosis than idiopathic pulmonary arterial hypertension. According to a case series from France, the median survival time from diagnosis to death or lung transplantation was only 1 year, and in a more recent analysis, pulmonary arterial hypertension therapy had no significant effect on survival. There are case reports and case series describing both beneficial and adverse effects of pulmonary arterial hypertension-related medications. The most life-threatening complication of such a therapy is pulmonary oedema. In the long term, lung transplantation remains the best treatment option for suitable patients. However, elderly patients with concomitant or precipitating malignant disease are not considered transplant candidates. We describe a 59-year-old pulmonary veno-occlusive disease patient with multiple myeloma in World Health Organisation functional class IV who was successfully treated with sildenafil for almost 5 years.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241292529"},"PeriodicalIF":0.6,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11580048/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142688705","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":"Integrated management of osteopathy and rehabilitation for complex regional pain syndrome: A case report.","authors":"Norah AlKuait, Hanan AlTaleb, Afrah Almuwais","doi":"10.1177/2050313X241301666","DOIUrl":"10.1177/2050313X241301666","url":null,"abstract":"<p><p>Complex regional pain syndrome (CRPS) is a debilitating condition that typically affects one limb, often triggered by acute trauma. Symptoms include persistent pain, skin sensitivity, swelling, and mobility issues. While various therapeutic approaches exist, evidence for the effectiveness of multimodal treatments is limited. A 25-year-old female presented with CRPS following a sciatic nerve injury due to an intramuscular injection. She experienced severe pain, swelling, and limited mobility in her left ankle. Physical therapy assessment revealed significant weakness and limitations in both active and passive range of motion due to pain and swelling. The patient underwent a holistic treatment consisting of osteopathy and rehabilitation exercises over 36 sessions spanning 9 months. Significant improvements were observed after treatment, including reduced pain, increased mobility, and improved nerve conduction. These findings suggest that a multimodal therapeutic approach may be beneficial in managing CRPS and improving patients' quality of life.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241301666"},"PeriodicalIF":0.6,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11580067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142688704","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}