Clinical Medicine Insights. Case Reports最新文献

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Strangled by His Nerves-Cervical Plexiform Neurofibroma With Infantile Spinal Neurofibromatosis: Case Report in a 14 Years Old Child. 小儿脊髓神经纤维瘤病伴颈丛状神经纤维瘤:14岁儿童1例报告。
IF 1
Clinical Medicine Insights. Case Reports Pub Date : 2023-01-01 DOI: 10.1177/11795476231164380
Ilias Tahiri, Abderrahim Bourial, Wahib Lahlou, Mounir Rghioui, Amal Hajjij, Abderrahmane Al Bouzidi, Mohamed Zalagh, Abdessamad El Azhari, Fouad Benariba
{"title":"Strangled by His Nerves-Cervical Plexiform Neurofibroma With Infantile Spinal Neurofibromatosis: Case Report in a 14 Years Old Child.","authors":"Ilias Tahiri,&nbsp;Abderrahim Bourial,&nbsp;Wahib Lahlou,&nbsp;Mounir Rghioui,&nbsp;Amal Hajjij,&nbsp;Abderrahmane Al Bouzidi,&nbsp;Mohamed Zalagh,&nbsp;Abdessamad El Azhari,&nbsp;Fouad Benariba","doi":"10.1177/11795476231164380","DOIUrl":"https://doi.org/10.1177/11795476231164380","url":null,"abstract":"<p><strong>Background: </strong>Neurofibromatoses are a rare group of autosomal dominant tumor suppressor phacomatoses syndromes. Neurofibromatosis type 1 (NF1 or Von Recklinghausen's disease) is the most commonly found type of neurofibromatosis, and constitutes the most commonly found autosomal dominant disease of the nervous system.</p><p><strong>Case presentation: </strong>We report a case of a 14-year-old boy who reported a 3-year-history of a slowly enlarging right lateral cervical mass. He has a medical history of a progressive limping gait disorder with scoliotic attitude. MRI identified a dumb-bell shaped intradural right cervical process through right paravertebral gutter on C2 to C4, a second intradural dorsal mass with the same characteristics through left paravertebral gutter on D4 and D5 and a large tissue-like mass infiltrating the lumbosacral subcutaneous soft tissues. A Surgical excision of the cervical and lumbar masses was performed with a good outcome after surgical excision.</p><p><strong>Conclusions: </strong>This case illustrates the need for a collaboration of both neurological and head and neck surgeons in terms of managing difficulties related to a cervical neurofibroma. Benign plexiform neurofibromas are rapidly growing tumors, particularly in children and adolescents, which makes all the importance of early detection and appropriate treatment. Repeated interventions are usually needed in order to adapt and stabilize the tumors extension.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"16 ","pages":"11795476231164380"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/59/66/10.1177_11795476231164380.PMC10064156.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9248443","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}
引用次数: 0
An Approach to Acute SARS-CoV-2 Management with Complementary Neuraltherapeutic Medicine: A Case Report. 补充神经治疗药物治疗急性SARS-CoV-2 1例
IF 1
Clinical Medicine Insights. Case Reports Pub Date : 2023-01-01 DOI: 10.1177/11795476231159584
Carlos Bustamante, Laura Pinilla, Oscar Amaris
{"title":"An Approach to Acute SARS-CoV-2 Management with Complementary Neuraltherapeutic Medicine: A Case Report.","authors":"Carlos Bustamante,&nbsp;Laura Pinilla,&nbsp;Oscar Amaris","doi":"10.1177/11795476231159584","DOIUrl":"https://doi.org/10.1177/11795476231159584","url":null,"abstract":"<p><strong>Background: </strong>It has been proposed that the immunomodulatory capacity of neuraltherapeutic medicine (NTM) functions by means of stimuli to the nervous system, which influences the self-regulatory and plastic capacity of the nervous system, especially through the autonomic balance between the sympathetic and parasympathetic nervous systems. Several studies report the usefulness of NTM in inflammatory pathologies.</p><p><strong>Case presentation: </strong>A case report through a retrospective review of the medical history of an 82-year-old male patient with a diagnosis of acute SARS-CoV-2 who received a therapeutic intervention of NTM at the beginning of his hospitalization and presented satisfactory clinical evolution, with a follow-up for 18 months without post-COVID sequelae. A patient diagnosed with acute pneumonia for SARS-CoV-2, and mild ARDS, with markers of severity given by the history of COPD, advanced age, and elevation of LDH, ferritin, and CRP. On the third day of hospitalization, he presented an episode of pulmonary thromboembolism. He presented significant clinical improvement with in-hospital management for 9 days and underwent out-patient control with no post-COVID sequelae.</p><p><strong>Conclusions: </strong>NTM could be useful for the management of acute inflammatory diseases, including viral diseases such as SARS-CoV-2, in a mild or severe state of inflammation, when added to allopathic medicine, and it can improve clinical evolution and long-term sequelae. More studies are needed to validate this information.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"16 ","pages":"11795476231159584"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a3/9a/10.1177_11795476231159584.PMC10076607.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9626957","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}
引用次数: 0
Treatment of Orofacial Granulomatosis-9-Month Follow-up: A Case Report. 口腔面部肉芽肿病的治疗-9个月随访1例。
IF 1
Clinical Medicine Insights. Case Reports Pub Date : 2023-01-01 DOI: 10.1177/11795476231160046
Mirlinda Sopi Krasniqi, Zana Sllamniku Dalipi, Donika Kastrati Dragidella, Labinota Kondirolli
{"title":"Treatment of Orofacial Granulomatosis-9-Month Follow-up: A Case Report.","authors":"Mirlinda Sopi Krasniqi,&nbsp;Zana Sllamniku Dalipi,&nbsp;Donika Kastrati Dragidella,&nbsp;Labinota Kondirolli","doi":"10.1177/11795476231160046","DOIUrl":"https://doi.org/10.1177/11795476231160046","url":null,"abstract":"<p><p>Orofacial granulomatosis is a condition that manifests clinically as painless labial enlargement, perioral and mucosal edema, oral ulcers, and gingivitis. It is characterized by non-necrotizing granulomatous inflammation of the oral and maxillofacial region. When the swelling only affects the lips, the pathology is called Miescher's granulomatous cheilitis; however, when it also causes facial paresis and lingua plicata, it is known as Melkersson-Rosenthal syndrome. We report a case that was successfully treated with a combination of a local (intralesional) steroid, a systemic antibiotic, and a systemic steroid. After 6 months of therapy, we observed improvement in gingival hyperplasia and buccal mucosa and lip edema.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"16 ","pages":"11795476231160046"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3e/a8/10.1177_11795476231160046.PMC10017931.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9138983","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}
引用次数: 0
Mitral Valve Endocarditis in Patient Awaiting TAVI: A Case Report. 等待TAVI的二尖瓣心内膜炎1例报告。
IF 1
Clinical Medicine Insights. Case Reports Pub Date : 2023-01-01 DOI: 10.1177/11795476231160045
Faith Michael, Jamie Farrow, Anthony Main
{"title":"Mitral Valve Endocarditis in Patient Awaiting TAVI: A Case Report.","authors":"Faith Michael,&nbsp;Jamie Farrow,&nbsp;Anthony Main","doi":"10.1177/11795476231160045","DOIUrl":"https://doi.org/10.1177/11795476231160045","url":null,"abstract":"<p><strong>Background: </strong>The current literature focuses on the risk of infective endocarditis (IE) <i>following</i> transcatheter aortic valve implantation (TAVI). However, the risk of IE in patients <i>waiting</i> for TAVI is not well-studied. We present a unique case of a patient waiting for TAVI with decompensated heart failure who was found to have a large mitral vegetation, and consider risk factors for the development of IE in this population.</p><p><strong>Case description: </strong>We report the case of an 85-year-old male with severe aortic stenosis and recurrent small bowel angiodysplasias, requiring frequent blood transfusions and intravenous iron. He presented to a peripheral hospital in decompensated heart failure. Transfer was arranged to our center to expedite TAVI, under the premise that worsening aortic stenosis precipitated his decompensated state. Prior to TAVI, an echocardiogram was done, and demonstrated a 30 × 18 mm mass on the mitral valve with anterior leaflet perforation and severe mitral regurgitation. The findings were consistent with IE, and the TAVI was cancelled. Despite antibiotic therapy, the patient unfortunately deteriorated and palliative care was provided.</p><p><strong>Conclusions: </strong>This case highlights the need for further research regarding the risk of IE in patients waiting for TAVI. Current literature focuses on the development and management of IE following TAVI. Clinicians must understand that TAVI candidates have multiple risk factors for IE, including valvular disease, age, and comorbidities. IE should be considered as a possible cause for decompensated heart failure in patients awaiting TAVI.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"16 ","pages":"11795476231160045"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a6/64/10.1177_11795476231160045.PMC10014979.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9151960","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}
引用次数: 0
Successful Treatment of Irinotecan-Induced Muscle Twitching: A Case Report. 伊立替康致肌肉抽搐的成功治疗一例报告。
IF 1
Clinical Medicine Insights. Case Reports Pub Date : 2023-01-01 DOI: 10.1177/11795476221150354
Yu-Ting Shun, Hsien-Yung Lai, Yi-Ting Chuang, Hsuen-Fu Lin
{"title":"Successful Treatment of Irinotecan-Induced Muscle Twitching: A Case Report.","authors":"Yu-Ting Shun,&nbsp;Hsien-Yung Lai,&nbsp;Yi-Ting Chuang,&nbsp;Hsuen-Fu Lin","doi":"10.1177/11795476221150354","DOIUrl":"https://doi.org/10.1177/11795476221150354","url":null,"abstract":"<p><p>Irinotecan, a topoisomerase I inhibitor, is commonly used in the treatment of advanced colorectal cancer. Its adverse effects include delay diarrhea, severe myelosuppression, and cholinergic-like symptoms. Though 2 cases of irinotecan-induced muscle twitching were reported but the successful treatment of this adverse event still not shown. We present a 24-year-old female patient with advanced colorectal cancer received bevacizumab and FOLFIRI (irinotecan + calcium leucovorin + 5-fluorouracil) treatment. Her right pectoralis major muscle presented with involuntary muscle twitching during the infusion of irinotecan at the sixth cycle of chemotherapy. The muscle twitching was slowly dissipated about 4 hours after the halted of irinotecan infusion. Then lorazepam 2 mg iv was injected before administration of irinotecan in an attempt to prevent the muscle twitching in the seventh cycle of chemotherapy. The patient did not report further muscle twitching. After that, lorazepam was routine administered before each cycle of FOLFIRI regiment. No any muscle twitching was observed after the use of lorazepam. This case provides valuable insight that muscle twitching can occur as rare irinotecan-related adverse effect. Benzodiazepine agonists, such as lorazepam, is the potential treatment of choice.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"16 ","pages":"11795476221150354"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/59/fe/10.1177_11795476221150354.PMC9905207.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10692795","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}
引用次数: 1
Concurrent Dengue-Malaria Infection: The Importance of Acute Febrile Illness in Endemic Zones. 登革热-疟疾并发感染:流行地区急性发热性疾病的重要性。
IF 1
Clinical Medicine Insights. Case Reports Pub Date : 2023-01-01 DOI: 10.1177/11795476221144585
Orlando González-Macea, María Cristina Martínez-Ávila, Marien Pérez, Ingrid Tibocha Gordon, Bárbara Arroyo Salgado
{"title":"Concurrent Dengue-Malaria Infection: The Importance of Acute Febrile Illness in Endemic Zones.","authors":"Orlando González-Macea,&nbsp;María Cristina Martínez-Ávila,&nbsp;Marien Pérez,&nbsp;Ingrid Tibocha Gordon,&nbsp;Bárbara Arroyo Salgado","doi":"10.1177/11795476221144585","DOIUrl":"https://doi.org/10.1177/11795476221144585","url":null,"abstract":"<p><strong>Context: </strong>Acute febrile disease (AFI) in endemic tropical areas is a frequent reason for consulting the emergency services. Infection by 2 or more etiological agents may modify clinical and laboratory parameters, making diagnosis and treatment a challenge.</p><p><strong>Case report: </strong>We report the case of a patient who came from Africa and consults in Colombia, with AFI with thrombocytopenia that was eventually diagnosed to have concurrent infection with <i>Plasmodium falciparum</i> malaria and dengue.</p><p><strong>Conclusions: </strong>Dengue-malaria coinfection infection reports are scarce; it should be suspected in patients living or returning from areas where both diseases are endemic or during dengue outbreaks. This case serves as a reminder of this important condition that causes high morbidity and mortality if it is not early diagnosed and treated.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"16 ","pages":"11795476221144585"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/04/21/10.1177_11795476221144585.PMC9972053.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10823376","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}
引用次数: 1
Secondary Mediastinal Bleeding Caused by Parathyroid Adenocarcinoma: A Case Report. 甲状旁腺癌致继发性纵隔出血1例。
IF 1
Clinical Medicine Insights. Case Reports Pub Date : 2023-01-01 DOI: 10.1177/11795476231190538
Hiep Hoang Phan, Cong Thanh Do, Luong Ngoc Tran, Son Giang Nguyen, Diep Ngoc Tran, Son Tien Nguyen, Tuan Dinh Le
{"title":"Secondary Mediastinal Bleeding Caused by Parathyroid Adenocarcinoma: A Case Report.","authors":"Hiep Hoang Phan,&nbsp;Cong Thanh Do,&nbsp;Luong Ngoc Tran,&nbsp;Son Giang Nguyen,&nbsp;Diep Ngoc Tran,&nbsp;Son Tien Nguyen,&nbsp;Tuan Dinh Le","doi":"10.1177/11795476231190538","DOIUrl":"https://doi.org/10.1177/11795476231190538","url":null,"abstract":"<p><strong>Introduction: </strong>The clinical picture of parathyroid tumors is mainly related to hypercalcemia such as kidney stones and bone and muscle pain. However, spontaneous cervical hemorrhage due to parathyroidoma bleeding is rare with clinical manifestations of the painful swelling and bruising of the neck accompanied by dysphagia and dyspnea.</p><p><strong>Case presentation: </strong>We report a case of a 71-year-old female patient who presented with acute cervical swelling and extensive bleeding spreading from the neck to the abdomen and 2 flanks. Investigation of patients revealed increased parathyroid hormone levels and hypercalcemia. The neck ultrasound showed the thyroid nodules in 2 lobes, and goiter plongeant on the right. Computed tomography scan images showed a hematoma spreading from the right side of the neck to the mediastinum.</p><p><strong>Result: </strong>The patient required emergency surgery due to dyspnea and hemodynamic instability. The preoperative diagnosis was cervical bleeding with the likely cause being thyroid nodule rupture. However, during the surgery, the bleeding source was determined to be the right parathyroid tumor located deeply below the superior mediastinum. The patient's histopathological result of the tumor is parathyroid adenocarcinoma.</p><p><strong>Conclusion: </strong>From our experience, the hemorrhage from parathyroid tumor should be considered as a cause of acute neck bleeding when no history of trauma or surgery is identified. Post-surgery histopathological analyses of the tumor are very important to detect parathyroid adenocarcinoma.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"16 ","pages":"11795476231190538"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ae/b4/10.1177_11795476231190538.PMC10402283.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10309296","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}
引用次数: 0
Massive Right Chylothorax Secondary to a Severe Systemic Lupus Erythematosus Flare With Secondary Evans Syndrome: A Case Report and Literature Review. 严重系统性红斑狼疮伴继发Evans综合征继发大量右侧乳糜胸1例报告及文献复习。
IF 1
Clinical Medicine Insights. Case Reports Pub Date : 2023-01-01 DOI: 10.1177/11795476231186735
David Corredor-Orlandelli, Andrés Arévalo-Romero, Carlos Reyes, Dylan Arango
{"title":"Massive Right Chylothorax Secondary to a Severe Systemic Lupus Erythematosus Flare With Secondary Evans Syndrome: A Case Report and Literature Review.","authors":"David Corredor-Orlandelli,&nbsp;Andrés Arévalo-Romero,&nbsp;Carlos Reyes,&nbsp;Dylan Arango","doi":"10.1177/11795476231186735","DOIUrl":"https://doi.org/10.1177/11795476231186735","url":null,"abstract":"<p><p>This case report describes a 23-year-old male patient who presented with right chylothorax as the initial manifestation of a severe flare of systemic lupus erythematosus (SLE) and secondary Evans syndrome. Chylothorax and chylous ascites are rare features of SLE that can occur due to the accumulation of triglyceride-rich fluid in serous cavities. However, they have never been reported as the initial manifestation of a lupus flare. Evans syndrome is a rare disease characterized by autoimmune hemolytic anemia and immune thrombocytopenia, which can be secondary to SLE. The concomitant occurrence of both chylothorax and Evans syndrome in the setting of systemic lupus erythematosus has never been described, and the exact causative mechanisms of both entities are yet to be fully understood. In this report, we discuss our approach to this challenging case to broaden the understanding of the clinical manifestations of systemic lupus erythematosus. Our findings emphasize the importance of considering rare features of systemic lupus erythematosus and secondary diseases when evaluating patients with the disease.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"16 ","pages":"11795476231186735"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/67/21/10.1177_11795476231186735.PMC10338652.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9823144","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}
引用次数: 0
Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature. 青少年发病原发性辅酶Q10缺乏伴罕见的辅酶q8a基因突变:1例报告及文献复习。
IF 1
Clinical Medicine Insights. Case Reports Pub Date : 2023-01-01 DOI: 10.1177/11795476231188061
Mahsa Hojabri, Abolfazl Gilani, Rana Irilouzadian, Habibe Nejad Biglari, Roham Sarmadian
{"title":"Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature.","authors":"Mahsa Hojabri,&nbsp;Abolfazl Gilani,&nbsp;Rana Irilouzadian,&nbsp;Habibe Nejad Biglari,&nbsp;Roham Sarmadian","doi":"10.1177/11795476231188061","DOIUrl":"https://doi.org/10.1177/11795476231188061","url":null,"abstract":"<p><strong>Background: </strong>Primary deficiency of coenzyme Q<sub>10</sub> deficiency-4 (CoQ<sub>10</sub>D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia.</p><p><strong>Case report: </strong>We provide a case of adolescence-onset ataxia, head tremor, and proximal muscle weakness accompanied by psychiatric features and abnormal serum urea (49.4 mg/dL), lactate (7.5 mmol/L), and CoQ10 level (0.4 µg/mL). Brain-MRI demonstrated cerebellar atrophy, thinning of the corpus callosum, and loss of white matter. Whole exome sequencing showed a homozygous missense mutation (c.911C>T; p.A304V) in CoQ8A gene which is a rare mutation and responsible variant of CoQ<sub>10</sub>D4. After supplementary treatment with CoQ<sub>10</sub> 50 mg/twice a day for 2 months the clinical symptoms improved.</p><p><strong>Conclusion: </strong>These observations highlight the significance of the early diagnosis of potentially treatable CoQ8A mutation as well as patient education and follow-up. Our findings widen the spectrum of CoQ8A phenotypic features so that clinicians be familiar with the disease not only in severe childhood-onset ataxia but also in adolescence with accompanying psychiatric problems.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"16 ","pages":"11795476231188061"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e0/0d/10.1177_11795476231188061.PMC10354825.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9904866","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}
引用次数: 0
Granulomatosis With Polyangiitis Presenting as an Infratemporal Fossa Mass. 肉芽肿伴多血管炎表现为颞下窝肿块。
IF 1
Clinical Medicine Insights. Case Reports Pub Date : 2023-01-01 DOI: 10.1177/11795476231161982
Sulgi Kim, Steven M Johnson, Erin Lopez, Taylor Stack, Meredith M Lamb, Abdullah L Zeatoun, Ibtisam Mohammad, Daniel Alicea Delgado, Meghan Norris, Christine Klatt-Cromwell, Brian Thorp, Charles S Ebert, Brent A Senior, Adam J Kimple
{"title":"Granulomatosis With Polyangiitis Presenting as an Infratemporal Fossa Mass.","authors":"Sulgi Kim,&nbsp;Steven M Johnson,&nbsp;Erin Lopez,&nbsp;Taylor Stack,&nbsp;Meredith M Lamb,&nbsp;Abdullah L Zeatoun,&nbsp;Ibtisam Mohammad,&nbsp;Daniel Alicea Delgado,&nbsp;Meghan Norris,&nbsp;Christine Klatt-Cromwell,&nbsp;Brian Thorp,&nbsp;Charles S Ebert,&nbsp;Brent A Senior,&nbsp;Adam J Kimple","doi":"10.1177/11795476231161982","DOIUrl":"https://doi.org/10.1177/11795476231161982","url":null,"abstract":"<p><p>Granulomatosis with polyangiitis is a rare autoimmune disease that affects small to medium-sized blood vessels throughout the body. Here, we present a case of an infratemporal mass that was the result of granulomatosis with polyangiitis. A 51-year-old male presented to the emergency department due to right cheek and facial pain that he had been experiencing for 2 to 3 months. An MRI revealed a mass within the right infratemporal and pterygopalatine fossae extending into the inferior right orbital fissure along the maxillary division of the trigeminal nerve (V2) and the vidian nerve causing concern for malignancy. Histology from an endoscopic biopsy demonstrated multiple arteries with luminal obliteration with non-necrotizing granulomas. The patient was started on steroids and immunosuppressive therapy, which improved his symptoms and decreased the size of the residual mass. This case illustrates the need for laboratory testing, imaging, and biopsy of the involved tissue in cases where GPA is suspected to prevent treatment delays that could lead to the destruction of vital organs.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"16 ","pages":"11795476231161982"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6b/96/10.1177_11795476231161982.PMC10041614.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9226895","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}
引用次数: 1
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