Journal of Medical Case Reports最新文献

{"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}

{"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}

{"title":"Significance of early diagnosis and treatment of adult late-onset Pompe disease on the effectiveness of enzyme replacement therapy in improving muscle strength and respiratory function: a case report.","authors":"Moein Mir, Kianmehr Rouhani, Kiana Rouhani, Mohammadjavad Hassani, Mohammadrafi Damirchi, Sajjad Yazdansetad, Mehrdad Aghaei","doi":"10.1186/s13256-024-04837-0","DOIUrl":"https://doi.org/10.1186/s13256-024-04837-0","url":null,"abstract":"<p><strong>Background: </strong>Pompe disease, a rare autosomal recessive disorder, is caused by mutations in the acid α-glucosidase gene. Pompe disease is a congenital metabolic disorder that affects all organs, particularly the striated muscle and nerve cells. Diagnosis is typically confirmed through enzyme assays that reveal reduced acid α-glucosidase activity. Enzyme replacement therapy utilizing human α-glucosidase is an available treatment option. Timely diagnosis and treatment in the early stages of the disease significantly impact the effectiveness of enzyme replacement therapy in enhancing patient condition. Here, we present a case of a patient with Pompe disease diagnosed 20 years after the onset of clinical symptoms.</p><p><strong>Case presentation: </strong>A 38-year-old Iranian Baloch woman referred to our rheumatology clinic with progressive muscle weakness presents with a complex medical history. On mechanical ventilation for 12 years, she has endured fatigue and limb weakness since the age of 16, exacerbated following an abortion at 19. Despite undergoing corticosteroid and azathioprine therapies, the suspected diagnosis of inflammatory myopathy did not yield improvement. Hospitalization at 23 due to respiratory failure post-pregnancy led to her continued reliance on a ventilator. A dried blood spot test indicated reduced GAA enzyme activity, confirming a diagnosis of Pompe disease through genetic testing. Treatment with myozyme for 2 years demonstrated limited efficacy, as the patient experienced improved breathing but no significant overall improvement in limb-girdle muscular weakness. This case underscores the challenges and complexities involved in diagnosing and managing rare neuromuscular disorders like Pompe disease.</p><p><strong>Conclusion: </strong>Early intervention with enzyme replacement therapy plays a crucial role in halting further muscle loss and disease progression in Pompe disease patients. It is important to note that treatment during advanced stages of the disease may not yield substantial benefits. Nevertheless, enzyme instability and denaturation due to temperature and neutral pH levels, along with limited delivery to disease-relevant tissues, can pose challenges in treatment. However, timely diagnosis of Pompe disease is paramount for its effective management and improved outcomes.</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/PMC11459847/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142391089","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":"Giant pedunculated liver hydatid cyst causing inferior vena cava syndrome: a case report.","authors":"Abdi Tesemma, Miheret Adane, Kebebe Bekele, Bekam Debebe, Edoardo Rosso, Demisu Zenbaba, Degefa Gomora, Girma Beressa","doi":"10.1186/s13256-024-04772-0","DOIUrl":"10.1186/s13256-024-04772-0","url":null,"abstract":"<p><strong>Background: </strong>Hydatid disease is a zoonotic infection caused by the species Echinococcus that typically affects the liver. Most liver hydatid cysts are asymptomatic at first, but as the cyst grows larger, symptoms, such as compression effects, start to appear. Ultrasonography and computed tomography scans are the widely used diagnostic tools, and surgery is considered the mainstay of treatment.</p><p><strong>Case presentation: </strong>We present an unusual case of a giant pedunculated hydatid cyst causing inferior vena cava syndrome in a 20-year-old male patient from the Oromo ethnic group from a rural area of the country. Abdominal ultrasound and computed tomography scan confirmed the diagnosis. Our patient underwent radical surgical resection of the cyst and had a good outcome.</p><p><strong>Conclusion: </strong>Hydatid liver cyst diagnosis needs a high index of suspicion for echinococcal etiology when dealing with a giant liver cyst as it results in grave complications without any manifestations.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11457485/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381025","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":"Severe hydronephrosis complicated with primary aldosteronism: a case report and review of the literature.","authors":"Jianjuan Sun, Qiurong Zeng, Longbing Lai, Mingjun Gu, Dingrong Liu, Guangxiu Wu, Chuan Peng, Shuming Yang, Qifu Li, Jiangang Lu","doi":"10.1186/s13256-024-04798-4","DOIUrl":"10.1186/s13256-024-04798-4","url":null,"abstract":"<p><strong>Background: </strong>Primary aldosteronism is characterized by high plasma aldosterone and low renin. The plasma aldosterone-to-renin ratio is recommended for screening. Severe hydronephrosis leads to renal parenchymal ischemia, resulting in increased renin secretion. Since nonsuppression of renin may cause a negative result in the aldosterone-to-renin ratio test, severe hydronephrosis and primary aldosteronism occurring simultaneously in a patient are challenging to diagnose.</p><p><strong>Case presentation: </strong>A 54-year-old Chinese man of Han ethnicity was diagnosed with hypertension and severe hypokalemia (minimum 1.57 mmol/L) 13 years prior, and was also diagnosed with severe hydronephrosis due to congenital ureteral stenosis on the left side. His clinical features suggested primary aldosteronism, but the aldosterone-to-renin ratio result of the patient was negative every time he underwent the primary aldosteronism screening test. No further treatment for primary aldosteronism was performed, which led the patient to suffer from severe hypokalemia, such that he was taking 12-15 g/day potassium chloride orally to keep his blood potassium between 3.0 and 3.5 mmol/L (reference value, 3.5-5.5 mmol/L) for 13 years, and the patient needed to be hospitalized in the intensive care unit for rescue several times. At admission, although the aldosterone-to-renin ratio result of the patient was negative, we still did the saline stress test and captopril inhibition test, and the results showed that the plasma aldosterone level was not lower after the test than before the test. Adrenal enhanced computed tomography suggested an adenoma in the left adrenal gland, and the results of adrenal vein sampling suggested that the left side was the dominant side. Therefore, laparoscopic total resection of the left adrenal gland was performed, and 2 weeks later, the patient developed short-term renal function impairment and hyperkalemia, but his renal function and blood potassium returned to normal after treatment that included fluid rehydration. The patient's biochemical test results and clinical symptoms were completely normal after 1 year.</p><p><strong>Conclusion: </strong>We suggest that for patients with a high suspicion of primary aldosteronism in the clinic, comprehensive analysis must be performed in combination with clinical characteristic assessments, such as severe hydronephrosis, if renin is within the normal range or if the aldosterone-to-renin ratio result is negative at screening and diagnostic tests, and adrenal vein sampling should be performed if necessary. It can help avoid misdiagnoses and contribute to the treatment of patients with severe hydronephrosis and primary aldosteronism.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11456234/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142377963","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":"Benign extracranial meningioma with pulmonary metastasis: a case report and review of literature.","authors":"Jianing Cui, Xiaozhao Zou, Ying Han, Jing Jiang","doi":"10.1186/s13256-024-04800-z","DOIUrl":"10.1186/s13256-024-04800-z","url":null,"abstract":"<p><strong>Background: </strong>Meningiomas are common central nervous system tumors, predominantly intracranial, they rarely develop extracranially. Moreover, benign meningiomas seldom metastasize.</p><p><strong>Case presentation: </strong>This article presents a case report of a 55-year-old Chinese male patient with a primary World Health Organization grade 1 meningioma originating from the petrous apex of the temporal bone, accompanied by pulmonary metastasis. Following two incomplete resections of the primary tumor, the patient underwent radiotherapy and has since maintained a stable condition.</p><p><strong>Conclusion: </strong>The case report highlights the rare occurrence of pulmonary metastasis in a benign World Health Organization grade 1 meningioma originating from an extracranial site. It also illustrates the important role of radiotherapy in treating patients with meningioma. Additionally, a review of related literature is provided to gain insights for the diagnosis and treatment of the disease.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452947/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142375568","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":"A presentation of basal cell adenoma: a case report.","authors":"Deviprasad Dosemane, Meera Niranjan Khadilkar, Nithya Chandy, Shikha Jayasheelan","doi":"10.1186/s13256-024-04692-z","DOIUrl":"10.1186/s13256-024-04692-z","url":null,"abstract":"<p><strong>Background: </strong>While statistically rare in comparison to other head and neck tumours, parotid gland swellings are often encountered in clinical practice where one of the primary goals of examination becomes distinction between benign and malignant lesions. Hallmarks of malignancy are characterized by a female preponderance, history of radiation exposure, a positive family history, and clinical features like heterogenous consistency, fixity to skin/underlying tissues and involvement of facial nerve.</p><p><strong>Case presentation: </strong>Here we present a case of parotid swelling in a 72-year old gentleman from south India that had a curious amalgamation of both benign and malignant features.</p><p><strong>Conclusions: </strong>While benign, the risk of malignant transformation and rare multicentric occurrence indicates a need to keep basal cell adenoma in mind in case of parotid swellings and their surgical management.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452998/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142375567","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":"Vascular complications during appendectomy: severe adhesion of the appendix to the right iliac artery: a case report.","authors":"Ahmad Hosseinzadeh, Hoora Rezaeibana, Mohammadreza Khosravi, Armin Sourani, Hadis Yazdanshenas, Reza Shahriarirad","doi":"10.1186/s13256-024-04794-8","DOIUrl":"10.1186/s13256-024-04794-8","url":null,"abstract":"<p><strong>Introduction: </strong>Appendicitis is a common cause of acute abdomen. Rarely, it may form adhesions to nearby structures, complicating surgeries, especially when involving vascular structures such as the internal iliac artery, potentially causing severe intraoperative hemorrhage.</p><p><strong>Case presentation: </strong>A 65-year-old Middle Eastern male presented with abdominal pain and anorexia for 5 days. Examination and imaging confirmed acute appendicitis with complications. Additionally, a large pelvic mass was noted. During surgery, severe bleeding was encountered due to an adhesion between the appendix and the right internal iliac artery, managed by ligating the artery. The patient recovered well and was discharged in stable condition. Histopathology confirmed the diagnosis.</p><p><strong>Conclusion: </strong>This case highlights a rare vascular complication of appendectomy due to abnormal adhesions between the appendix and the internal iliac artery, associated with a large pelvic mass. This study emphasizes the need for thorough preoperative evaluation and careful surgical planning in patients with unusual anatomical variations or specific underlying conditions such as neurofibromatosis. Early recognition and strategic management of vascular adhesions are essential to optimize patient outcomes in appendectomies complicated by such rare scenarios.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11450989/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142372064","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":"Pericardial cyst unveiling: a case of unusual chest symptoms in a young woman with a family history of cancer: a case report and review of literature.","authors":"Parisa Adib-Hajbagheri, Mohsen Mirmohammadsadeghi, Mohammadhossien Paknahad, Mahdi Rafiyan","doi":"10.1186/s13256-024-04771-1","DOIUrl":"10.1186/s13256-024-04771-1","url":null,"abstract":"<p><strong>Background: </strong>Pericardial cysts, though rare and benign, can present with various clinical symptoms depending on their size and location in the body. The detection of these cysts typically relies on imaging studies for a conclusive diagnosis, with surgical removal being the definitive treatment.</p><p><strong>Case presentation: </strong>This case report details the clinical journey of a 32-year-old Iranian woman with a family history of breast and lung cancer, who experienced left-sided chest pain. Utilizing a combination of clinical history review, mammography, echocardiography, and computed tomography, a precise diagnosis of a 10 cm × 3.5 cm pericardial cyst was achieved. The patient underwent median sternotomy for complete cyst excision.</p><p><strong>Conclusions: </strong>While pericardial cysts are often asymptomatic and benign, they can lead to life-threatening complications. Hence, regular follow-up is advised, and in certain instances, minimally invasive interventions or surgery may be necessary.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11448456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142365529","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":"Conservative treatment in uterine perivascular epithelioid cell tumor of uncertain malignant potential: a case report.","authors":"Ines Zemni, Ines Houissa, Nadia Boujelbene, Saida Sakhri, Imene Sassi, Tarek Ben Dhiab","doi":"10.1186/s13256-024-04781-z","DOIUrl":"10.1186/s13256-024-04781-z","url":null,"abstract":"<p><strong>Introduction: </strong>Perivascular epithelioid cell tumors are uncommon mesenchymal tumors. The genital tract is the most common extrarenal location. Preoperative diagnosis is rarely achieved owing to non-specific symptoms and imaging features. Consensus on treatment strategies remains elusive. Case presentation We report the case a 38 year-old north African woman with a primary sterility, who was diagnosed with a uterine Perivascular epithelioid cell tumor of uncertain malignant potential on a resection specimen of an intracavity polypoid mass. Immunohistochemistry confirmed the diagnosis and we opted for conservative surgery to preserve the patient's fertility desires.</p><p><strong>Conclusion: </strong>Uterine perivascular epithelioid cell tumor is a rare entity that warrants consideration in the differential diagnosis of uterine tumors. Treatment modalities, follow-up protocols, and prognosis remain ambiguous. Given their unpredictable behavior, accurate diagnosis and long-term monitoring are imperative.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11446033/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142361653","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}