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Giant cellulitis-like Sweet syndrome mimicking cellulitis: a case report. 模仿蜂窝组织炎的巨大蜂窝组织炎样斯威特综合征:病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-10-11 DOI: 10.1186/s13256-024-04848-x
Selamawit T Muche, Lishan D Tefera, Nigatu A Gerba, Kibrom M Gebremedhin, Abdusamed A Abdusamed, Melkamu K Nidaw, Abenezer A Kebede, Edom T Degefa
{"title":"Giant cellulitis-like Sweet syndrome mimicking cellulitis: a case report.","authors":"Selamawit T Muche, Lishan D Tefera, Nigatu A Gerba, Kibrom M Gebremedhin, Abdusamed A Abdusamed, Melkamu K Nidaw, Abenezer A Kebede, Edom T Degefa","doi":"10.1186/s13256-024-04848-x","DOIUrl":"10.1186/s13256-024-04848-x","url":null,"abstract":"<p><strong>Background: </strong>Sweet syndrome (acute febrile neutrophilic dermatosis) is an uncommon inflammatory disorder characterized by the abrupt appearance of painful, edematous, and erythematous papules, plaques, or nodules on the skin. There are various subtypes, such as classical, drug-induced, malignancy-associated, and the less common variant giant cellulitis-like Sweet syndrome. This case is unique due to its presentation of the giant cellulitis-like variant of Sweet syndrome in a patient from Ethiopia. The unusual distribution of the skin lesions and the initial lack of response to antibiotics make this case particularly noteworthy. It underscores the importance of considering Sweet syndrome in differential diagnoses when faced with atypical skin manifestations and ineffective antibiotic treatment. This contribution adds valuable insights to the scientific literature by highlighting the need for heightened awareness of this rare variant and improving diagnostic accuracy in similar clinical scenarios.</p><p><strong>Case presentation: </strong>A 60-year-old Ethiopian male patient who presented to the accident and emergency department with a 5-day history of fever, chills, sweating, and rigor accompanied by a reddish skin color change around the anterolateral region of the right chest wall. On physical examination, there were erythematous, indurated tender plaques with ill-defined borders over the right antero- and posterolateral chest wall with extension to the lateral part of the right neck and medial aspect of the right arm. Subsequently, the patient was started on antibiotics, but there was a suboptimal response. Skin biopsy revealed features suggestive of giant cellulitis-like Sweet syndrome. He was then started on steroids, which significantly improved his symptoms.</p><p><strong>Conclusion: </strong>A cautious stance is essential when identifying Sweet syndrome in individuals displaying erythematous plaque-like skin lesions in atypical areas of the body with uneven distribution. Such presentation may signal Sweet syndrome rather than a common infection. If conventional treatments, such as antibiotics, fail to resolve symptoms, consider Sweet syndrome as a potential diagnosis. This approach ensures timely and appropriate treatment, preventing treatment delay and misdiagnosis.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11468183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400507","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
Adult-onset Still's disease masquerading as acute coronary syndrome: a case report and review of the literature. 伪装成急性冠状动脉综合征的成人型斯蒂尔病:病例报告和文献综述。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-10-10 DOI: 10.1186/s13256-024-04799-3
Indigo Milne, Rhea Kanwar, Whitney Martin, Daniel Egert, Allison Leisgang, Shirley A Albano-Aluquin, Maria P Henao, Christine Kreider, Paddy Ssentongo
{"title":"Adult-onset Still's disease masquerading as acute coronary syndrome: a case report and review of the literature.","authors":"Indigo Milne, Rhea Kanwar, Whitney Martin, Daniel Egert, Allison Leisgang, Shirley A Albano-Aluquin, Maria P Henao, Christine Kreider, Paddy Ssentongo","doi":"10.1186/s13256-024-04799-3","DOIUrl":"10.1186/s13256-024-04799-3","url":null,"abstract":"<p><strong>Introduction: </strong>Adult-onset Still's disease is a rare systemic autoinflammatory disease. We present a case of a young man with a constellation of symptoms and myopericarditis as a complication of this disease.</p><p><strong>Case: </strong>A 36-year-old Hispanic man with no significant past medical history developed a quotidian fever pattern following an upper respiratory tract infection. He initially presented with chest pain concerning for myocardial infarction and underwent cardiac catheterization, which revealed non-obstructive coronary artery disease. He was found to have myopericarditis, significant neutrophilic leukocytosis, and hyperferritinemia. He improved on high-dose corticosteroids but developed steroid-induced psychosis, and 4 months from symptom onset, he finally received tocilizumab, which eventually induced remission without adverse reactions.</p><p><strong>Discussion: </strong>Adult-onset Still's disease should be considered in a patient with fevers of undetermined origin. Due to its multisystemic involvement, adult-onset Still's disease is often a diagnosis arrived at after an extensive cardiac, hematologic, malignant, and infectious workup. Imaging, laboratory testing, and bone marrow biopsy were necessary to rule out alternative etiologies of this patient's presentation. Steroids are the mainstay of treatment because they are easily affordable, although the high risk of adverse effects makes them less desirable. Interleukin-1 inhibitors (anakinra or canakinumab) and interleukin-6 inhibitor tocilizumab are the steroid-sparing biologic agents of choice but are cost-prohibitive.</p><p><strong>Conclusion: </strong>Adult-onset Still's disease should be considered in the differential diagnoses of fever of undetermined origin. Early identification and initiation of treatment are critical to faster recovery and prevention of progression to severe complications. Steroids remain the standard first-line therapy and should be followed by disease-modifying steroid sparing drugs. The social determinants of health may preclude their timely initiation and should alert providers of proactive ways to avoid further delays.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11465706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391073","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
Surgical management of traumatic spondyloptosis: a case series. 外伤性脊柱软化症的手术治疗:病例系列。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-10-10 DOI: 10.1186/s13256-024-04705-x
Samaj Gautam, Ramesh Syangtan Tamang, Kuldeep Joshi, Suzit Bhusal, Reshika Shrestha
{"title":"Surgical management of traumatic spondyloptosis: a case series.","authors":"Samaj Gautam, Ramesh Syangtan Tamang, Kuldeep Joshi, Suzit Bhusal, Reshika Shrestha","doi":"10.1186/s13256-024-04705-x","DOIUrl":"10.1186/s13256-024-04705-x","url":null,"abstract":"<p><strong>Background: </strong>Traumatic spondyloptosis is a rare and severe spinal injury characterized by complete anterior translation of one vertebra over another, often resulting in debilitating neurological deficits.</p><p><strong>Case presentation: </strong>We present two cases of traumatic spondyloptosis and elaborate on the clinical presentation, management, and follow-up improvement. The first case is a 30-year-old Nepalese man who sustained traumatic spondyloptosis following a blunt force injury to his back while engaged in tree-cutting activities. The patient presented with severe back pain, left lower limb paralysis, and neurological deficits (consistent with American Spinal Injury Association grade C). Radiographic evaluation revealed total anterior dislocation of the L4 vertebral body over L5, accompanied by fractures of the superior endplates of both vertebrae. The second case is a 35-year-old Nepalese female who presented with back pain and lower limb paralysis following a fall from a 300-m cliff, exhibiting tenderness and ecchymosis in the mid-back region. Radiological examination revealed D12 vertebra translation over L1 with fracture, categorized as American Spinal Injury Association grade A. Both cases were surgically managed and stabilized.</p><p><strong>Conclusion: </strong>These cases emphasize the importance of a comprehensive approach to trauma management as well as prompt recognition, and early surgical management in optimizing outcomes for patients with traumatic spondyloptosis.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11465537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391090","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
Correction: Spontaneous hemopneumothorax causing life-threatening hemorrhage: a case report. 更正:自发性血气胸导致危及生命的大出血:一份病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-10-10 DOI: 10.1186/s13256-024-04839-y
Misayo Nishikawa, Masaru Shimizu, Taiken Banno, Ryota Dobashi, Shinya Ito
{"title":"Correction: Spontaneous hemopneumothorax causing life-threatening hemorrhage: a case report.","authors":"Misayo Nishikawa, Masaru Shimizu, Taiken Banno, Ryota Dobashi, Shinya Ito","doi":"10.1186/s13256-024-04839-y","DOIUrl":"10.1186/s13256-024-04839-y","url":null,"abstract":"","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11468382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400498","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
Disseminated melioidosis-challenge to routine antibiotic therapy: a case report. 播散性美拉德氏病--对常规抗生素治疗的挑战:病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-10-09 DOI: 10.1186/s13256-024-04808-5
Atish Mohapatra, Pragya Agarwala, Hari Prasad Sirigiri, Padma Das
{"title":"Disseminated melioidosis-challenge to routine antibiotic therapy: a case report.","authors":"Atish Mohapatra, Pragya Agarwala, Hari Prasad Sirigiri, Padma Das","doi":"10.1186/s13256-024-04808-5","DOIUrl":"10.1186/s13256-024-04808-5","url":null,"abstract":"<p><strong>Introduction: </strong>Melioidosis caused by Burkholderia pseudomallei, often referred to as a great mimicker or escapist, evades not only the immune system, but also all manual identification methods in an under-equipped clinical microbiology laboratory due to its tedious identification process. This is a case report of disseminated melioidosis with septic arthritis, misdiagnosed both clinicoradiologically and microbiologically as disseminated tuberculosis or other bacterial infection.</p><p><strong>Case history: </strong>A middle-aged Asian diabetic male presented with high-grade fever and breathlessness for 4 days along with left knee and ankle swelling for 40 days. Previous hospitalization records revealed growth of pan-sensitive Acinetobacter spp. from ankle and a chest X-ray suspecting tuberculosis for which antibiotic and antitubercular regimen were initiated. After admission, repeated blood cultures and pus culture (ankle and knee joint) confirmed Burkholderia pseudomallei with VITEK-II automated identification system. Recommended therapy was initiated according to revised Darwin's guideline, leading to gradual cure of the patient.</p><p><strong>Conclusion: </strong>Misidentification leads to inadequate treatment, as melioidosis medication is different from other bacterial infections. Here initiation of meropenem- and cotrimoxazole-intensive therapy for 4 weeks, and 6-month eradication phase with cotrimoxazole, resulted in gradual recovery of the patient. It took around 21 days of intensive antibiotic therapy to get bacteriological clearance from blood, which signifies the tenacious nature of this infection.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462815/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391075","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
Triphallia: the first cadaveric description of internal penile triplication: a case report. Triphallia:首例阴茎内侧三叠的尸体描述:病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-10-09 DOI: 10.1186/s13256-024-04751-5
John Buchanan, Madeleine Gadd, Rose How, Edward Mathews, Andre Coetzee, Karuna Katti
{"title":"Triphallia: the first cadaveric description of internal penile triplication: a case report.","authors":"John Buchanan, Madeleine Gadd, Rose How, Edward Mathews, Andre Coetzee, Karuna Katti","doi":"10.1186/s13256-024-04751-5","DOIUrl":"10.1186/s13256-024-04751-5","url":null,"abstract":"<p><strong>Introduction: </strong>Triphallia, a rare congenital anomaly describing the presence of three distinct penile shafts, has been reported only once in the literature. This case report, based on an extensive literature review, describes the serendipitous discovery during cadaveric dissection of the second reported human case of triphallia, distinctly morphologically different from the previous case.</p><p><strong>Case presentation: </strong>Despite the normal appearance of external genitalia on examination, the dissection of a 78-year-old white male revealed a remarkable anatomical variation: two small supernumerary penises stacked in a sagittal orientation posteroinferiorly to the primary penis. Each penile shaft displayed its own corpora cavernosa and glans penis. The primary penis and largest and most superficial of the supernumerary penises shared a single urethra, which coursed through the secondary penis prior to its passage through the primary penis. A urethra-like structure was absent from the smallest supernumerary penis.</p><p><strong>Conclusion: </strong>This case report provides a comprehensive description of the anatomical features of triphallia in a cadaver, shedding light on the morphology, embryology, and clinical implications of this anomaly. Without dissection, this anatomical variation would have remained undiscovered, suggesting the prevalence of polyphallia may be greater than expected. The single tortuous urethra present in this case, as well as the supernumerary and blind ending urethras present in many cases of penile duplication, may pose significant risk of infection, sexual dysfunction, subfertility, and traumatic catheterization.</p><p><strong>Significance: </strong>These findings underscore the importance of meticulous anatomical dissections and may act as a resource for anatomists and those studying genitourinary anomalies. Although we can only speculate as to which functional implications this patient may have experienced, understanding such anatomical variations contributes to both knowledge of human anatomy and clinical management should the condition be encountered in living individuals.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391092","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
Arthroscopic shoulder surgery for gouty long head of biceps tendinitis: a case report. 痛风性肱二头肌长头肌腱炎的肩关节镜手术:病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-10-09 DOI: 10.1186/s13256-024-04827-2
Xingrui Huang, Jianhua Wang, Zhigang Xiong, Qirong Dong, Bo Tian
{"title":"Arthroscopic shoulder surgery for gouty long head of biceps tendinitis: a case report.","authors":"Xingrui Huang, Jianhua Wang, Zhigang Xiong, Qirong Dong, Bo Tian","doi":"10.1186/s13256-024-04827-2","DOIUrl":"10.1186/s13256-024-04827-2","url":null,"abstract":"<p><strong>Objective: </strong>The objective of the case report is to analyze the clinical manifestations and imaging features of gouty long head of biceps tendinitis, and to summarize the methods and effects of shoulder arthroscopic surgery.</p><p><strong>Clinical presentation and intervention: </strong>The clinical data of a 39-year-old Han Chinese female with gouty long head of the biceps tendinitis was retrospectively analyzed, and the clinical manifestations, imaging features, and diagnosis and treatment were analyzed. The patient presented with pain and limited movement of right shoulder joint. Computed tomography showed irregular high-density shadows above the glenoid and adjacent to the coracoid process of the right shoulder. Magnetic resonance imaging revealed superior labrum anterior and posterior injury with edema in the upper recess and axillary sac. After arthroscopic surgery, the \"tofu residue\" tissue of the long head of the biceps was removed, and the postoperative pathological examination proved that it was gout stone.</p><p><strong>Conclusion: </strong>Gouty long head of the biceps tendinitis is a rare disease. Arthroscopic surgery can probe the structural lesions of shoulder cavity in all aspects, improve the surgical accuracy, and reduce the trauma.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462664/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391074","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
Synchronous sigmoid-cecal volvulus: a rare case of large-bowel obstruction-a case report. 乙状结肠与盲肠同步下卷:一例罕见的大肠梗阻病例--病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-10-09 DOI: 10.1186/s13256-024-04775-x
Yasa Abdullhi Mohamed, Kyomukama Amagara Lauben, Umaru Kabuye, Daniel Asiimwe, Emmanuel Mswelo Venance, Michael Mugenyi
{"title":"Synchronous sigmoid-cecal volvulus: a rare case of large-bowel obstruction-a case report.","authors":"Yasa Abdullhi Mohamed, Kyomukama Amagara Lauben, Umaru Kabuye, Daniel Asiimwe, Emmanuel Mswelo Venance, Michael Mugenyi","doi":"10.1186/s13256-024-04775-x","DOIUrl":"10.1186/s13256-024-04775-x","url":null,"abstract":"<p><strong>Introduction and importance: </strong>Large bowel obstruction caused by volvulus poses a life-threatening risk without immediate intervention. Sigmoid colon volvulus is predominant (43-75%), followed by cecal volvulus 10-52%). Synchronous double colonic volvulus is extremely rare, with limited documented cases in academic literature.</p><p><strong>Case presentation: </strong>We report a case of synchronous volvulus involving the sigmoid colon and cecum in a 45-year-old male of the Toro tribe from Fort Portal city in western Uganda who presented with acute abdominal pain, distension, and complete constipation for 2 days, accompanied by five episodes of non-bloody feculent vomiting and anorexia.</p><p><strong>Clinical discussion: </strong>Upon admission, the patient presented with stable vital signs and a mildly tender, tympanic, distended abdomen with absent bowel sounds. Plain radiographs revealed the characteristic \"coffee bean\" sign, indicative of sigmoid volvulus. Following optimization, laparotomy confirmed synchronous volvulus involving both the sigmoid and cecum. Subsequently, a total colectomy with end ileostomy was performed, after which the patient experienced an uneventful recovery.</p><p><strong>Conclusion: </strong>Synchronous double colonic volvulus, a rare condition, is frequently overlooked clinically. Timely recognition and intervention are crucial to address diagnostic challenges and prevent potentially fatal outcomes.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391091","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
Ectatic vertebral artery associated medullary compression treated with microvascular decompression: a case report and review of literature. 微血管减压术治疗外生椎动脉相关髓质压迫:病例报告和文献综述。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-10-08 DOI: 10.1186/s13256-024-04713-x
Jorrdan N Bissell, Brandon Edelbach, Vadim Gospodarev, Kenneth M De Los Reyes, Promod Pillai
{"title":"Ectatic vertebral artery associated medullary compression treated with microvascular decompression: a case report and review of literature.","authors":"Jorrdan N Bissell, Brandon Edelbach, Vadim Gospodarev, Kenneth M De Los Reyes, Promod Pillai","doi":"10.1186/s13256-024-04713-x","DOIUrl":"https://doi.org/10.1186/s13256-024-04713-x","url":null,"abstract":"<p><strong>Background: </strong>Vertebral artery compression syndrome is a rare condition defined as the clinical presentation of dizziness, vertigo, ataxia, dysarthria, dysphagia, progressive or acute paralysis, hemisensory loss, and cervical myelopathy secondary to compression of the medulla and upper spinal cord by the vertebral artery.</p><p><strong>Case description: </strong>Here we describe a 57-year-old Mexican-American male with bulbar symptoms, positional vertigo, and diplopia. The patient's symptoms were managed through microsurgical decompression of the medulla utilizing a far lateral transcondylar approach. The patient reported clinical improvement on follow-up.</p><p><strong>Conclusion: </strong>This case underscores the clinical complexity and heterogeneity of this rare neurovascular pathology and the importance of elucidating the pathophysiological mechanisms underlying the symptomatic presentation of vertebral artery compression syndrome.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11460100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391076","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
Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report. PYGM基因突变罕见地表现为晚发性麦卡德尔病伴凸眼症:病例报告。
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-10-08 DOI: 10.1186/s13256-024-04802-x
Johannes Stalter, Ursula Gies, Christian Mathys, Karsten Witt
{"title":"Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report.","authors":"Johannes Stalter, Ursula Gies, Christian Mathys, Karsten Witt","doi":"10.1186/s13256-024-04802-x","DOIUrl":"https://doi.org/10.1186/s13256-024-04802-x","url":null,"abstract":"<p><strong>Background: </strong>Glycogen storage disease type 5 (McArdle disease) leads to a deficiency in the activity of myophosphorylase resulting in an impaired glucose utilization. The disease can be caused by a variety of mutations in the PYGM gene, and its typical clinical manifestation is muscles weakness within the first three decades of life.</p><p><strong>Case presentation: </strong>In this case report we present the diagnostic work-up of a physically active 78-year-old Caucasian patient suffering from a 2-year history of progressive camptocormia including clinical, radiologic, histological, and genetic tests. There was no history of neuro-muscular diseases in the family. Serum CK levels were moderately increased while other blood/urine parameters were normal. Magnetic resonance imaging showed fatty remodeling of the muscles of the back. Histochemical examination of a muscle biopsy revealed the absence of myophosphorylase activity, while gene analysis identified a known early-onset McArdle mutation in the PYGM gene.</p><p><strong>Conclusion: </strong>This case highlights that the clinical spectrum of PYGM gene mutation typically manifest during adolescence, but it is also a differential diagnosis in late onset muscle disorders and emphases the investigation of the role of ACE inhibitors in this disease.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11460110/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391093","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
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