Objective: Aortic dissection, a rare but serious condition, requires timely diagnosis and treatment.
Case report: A case report involving a 33-year-old female with Stanford type B aortic dissection at 32 + 3 weeks gestational age highlights the importance of being alert to the symptoms and signs of this condition, particularly in patients with hypertension or a history of connective tissue disorders. The case report suggests a delivery first strategy followed by TEVAR procedure as the preferred approach for managing aortic dissection in pregnancy. This approach can alleviate pressure on the aorta, reduce the risk of rupture, and provide time for stabilization and preparation for the TEVAR procedure.
Conclusion: The case report emphasizes the criticality of recognizing and treating aortic dissection in pregnant patients promptly, given its potential life-threatening impact on both mother and fetus.
{"title":"Delivery-First Strategy Followed by Endovascular Repair to Treat Pregnant Woman With Acute Complicated Type B Aortic Dissection.","authors":"Chen Ming Huang, Chen-Hua Wang, Hao-Chin Wang, Yi-Ting Chuang, Shu-Yi Sung, Chi-Yuan Liao","doi":"10.1177/11795476241265270","DOIUrl":"10.1177/11795476241265270","url":null,"abstract":"<p><strong>Objective: </strong>Aortic dissection, a rare but serious condition, requires timely diagnosis and treatment.</p><p><strong>Case report: </strong>A case report involving a 33-year-old female with Stanford type B aortic dissection at 32 + 3 weeks gestational age highlights the importance of being alert to the symptoms and signs of this condition, particularly in patients with hypertension or a history of connective tissue disorders. The case report suggests a delivery first strategy followed by TEVAR procedure as the preferred approach for managing aortic dissection in pregnancy. This approach can alleviate pressure on the aorta, reduce the risk of rupture, and provide time for stabilization and preparation for the TEVAR procedure.</p><p><strong>Conclusion: </strong>The case report emphasizes the criticality of recognizing and treating aortic dissection in pregnant patients promptly, given its potential life-threatening impact on both mother and fetus.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"17 ","pages":"11795476241265270"},"PeriodicalIF":0.8,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11283656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141787385","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}
Pub Date : 2024-06-22eCollection Date: 2024-01-01DOI: 10.1177/11795476241263683
Mohammad Ali Alshrouf, Zuhdi O Elifranji, Sereen Halayqeh, Munther Al-Saber, Abdulrahman M Karam
Introduction: Tuberculosis (TB) is one of the most prevalent infectious diseases globally, often presenting with nonspecific symptoms that can obscure diagnosis, especially when it manifests in uncommon sites such as osteoarticular tuberculosis (OA-TB).
Case presentation: We report a rare case of a 9-year-old male diagnosed with right knee tuberculosis after enduring severe symptoms for several months. Despite multiple negative biopsies and aspirates during initial debridement surgeries, a biopsy taken 6 months later confirmed the presence of Mycobacterium tuberculosis (MTB). The patient was subsequently treated with debridement and anti-tubercular therapy.
Conclusion: This case underscores the critical need to consider tuberculosis in patients presenting with chronic bone pain to avoid misdiagnosis, particularly in the developing world. The atypical presentation of osteoarticular tuberculosis in this young patient emphasizes the need for healthcare professionals to recognize subtle symptoms. Advanced imaging studies like MRI and microbiological evaluations, including site biopsies, are essential for accurate diagnosis. Increased awareness and collaborative research are crucial to improving the understanding and management of pediatric osteoarticular tuberculosis and extrapulmonary tuberculosis.
{"title":"Silent Case of Pediatric Osteoarticular Tuberculosis: A Case Report and Review of the Literature.","authors":"Mohammad Ali Alshrouf, Zuhdi O Elifranji, Sereen Halayqeh, Munther Al-Saber, Abdulrahman M Karam","doi":"10.1177/11795476241263683","DOIUrl":"10.1177/11795476241263683","url":null,"abstract":"<p><strong>Introduction: </strong>Tuberculosis (TB) is one of the most prevalent infectious diseases globally, often presenting with nonspecific symptoms that can obscure diagnosis, especially when it manifests in uncommon sites such as osteoarticular tuberculosis (OA-TB).</p><p><strong>Case presentation: </strong>We report a rare case of a 9-year-old male diagnosed with right knee tuberculosis after enduring severe symptoms for several months. Despite multiple negative biopsies and aspirates during initial debridement surgeries, a biopsy taken 6 months later confirmed the presence of <i>Mycobacterium tuberculosis</i> (MTB). The patient was subsequently treated with debridement and anti-tubercular therapy.</p><p><strong>Conclusion: </strong>This case underscores the critical need to consider tuberculosis in patients presenting with chronic bone pain to avoid misdiagnosis, particularly in the developing world. The atypical presentation of osteoarticular tuberculosis in this young patient emphasizes the need for healthcare professionals to recognize subtle symptoms. Advanced imaging studies like MRI and microbiological evaluations, including site biopsies, are essential for accurate diagnosis. Increased awareness and collaborative research are crucial to improving the understanding and management of pediatric osteoarticular tuberculosis and extrapulmonary tuberculosis.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"17 ","pages":"11795476241263683"},"PeriodicalIF":0.8,"publicationDate":"2024-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11193920/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141442196","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}
Pub Date : 2024-06-17eCollection Date: 2024-01-01DOI: 10.1177/11795476241261883
Ikram Attouchi, Nouha Dammak, Hela Zouaghi, Mohamed Ben Khelifa
Introduction: Intracranial empyema is a rare but serious and life-threatening infection. It is an accumulation of purulent material in the subdural or extradural space leading to development of subdural empyema or intracranial epidural abscess, respectively. The incidence of morbidity and mortality is high because the diagnosis is often unsuspected. Infections of dental origin could be responsible for such condition.
Case reports: A 22-year-old female and 30-year-old male patients, both with no significant medical history, presented with subdural empyema and intracranial epidural abscess, respectively, both complicating pan-sinusitis of dental origin. Successful outcomes were achieved with surgical drainage of the lesions, antibiotic therapy, and extraction of affected teeth. Female patient underwent further management for neurological sequelae, while male patient was discharged without neurological complications.
Discussion: Intracranial suppuration of odontogenic origin is an uncommon but extremely serious complication. The most common dental origins are caries with periapical involvement and periodontitis. Wisdom tooth extraction is the most common preceding dental procedure for this infection. A multidisciplinary approach is essential for the identification and treatment of suspected oral sources. Antibiotic therapy with surgical approach is the gold standard treatment.
Conclusion: This sequel to odontogenic infection is quite rare, but it can be prevented by a good oral hygiene and removal of abscessed teeth.
{"title":"Intracranial Infections Arising From an Odontogenic Infection: A Report of 2 Cases.","authors":"Ikram Attouchi, Nouha Dammak, Hela Zouaghi, Mohamed Ben Khelifa","doi":"10.1177/11795476241261883","DOIUrl":"10.1177/11795476241261883","url":null,"abstract":"<p><strong>Introduction: </strong>Intracranial empyema is a rare but serious and life-threatening infection. It is an accumulation of purulent material in the subdural or extradural space leading to development of subdural empyema or intracranial epidural abscess, respectively. The incidence of morbidity and mortality is high because the diagnosis is often unsuspected. Infections of dental origin could be responsible for such condition.</p><p><strong>Case reports: </strong>A 22-year-old female and 30-year-old male patients, both with no significant medical history, presented with subdural empyema and intracranial epidural abscess, respectively, both complicating pan-sinusitis of dental origin. Successful outcomes were achieved with surgical drainage of the lesions, antibiotic therapy, and extraction of affected teeth. Female patient underwent further management for neurological sequelae, while male patient was discharged without neurological complications.</p><p><strong>Discussion: </strong>Intracranial suppuration of odontogenic origin is an uncommon but extremely serious complication. The most common dental origins are caries with periapical involvement and periodontitis. Wisdom tooth extraction is the most common preceding dental procedure for this infection. A multidisciplinary approach is essential for the identification and treatment of suspected oral sources. Antibiotic therapy with surgical approach is the gold standard treatment.</p><p><strong>Conclusion: </strong>This sequel to odontogenic infection is quite rare, but it can be prevented by a good oral hygiene and removal of abscessed teeth.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"17 ","pages":"11795476241261883"},"PeriodicalIF":1.0,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11184996/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141418189","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}
Pub Date : 2024-06-17eCollection Date: 2024-01-01DOI: 10.1177/11795476241262213
Ning Zhao, Yong Zhao, Mingze Chang, Gejuan Zhang, Ying Lu, Shilin Li, Juan Ma, QianQian Qi
Background: Cerebral infarct associated with varicella-zoster virus (VZV) has been reported in the literature, while isolated central dizziness due to lateral medullary infarct (LMI) following VZV infection is rarely reported.
Case report: We report the case of a 65-year-old man who presented to the neurology department because of herpes zoster on the right trigeminal nerve distribution. At 12 hours after admission, he developed transient vertigo along with nausea and unsteady walking and left-sided spontaneous horizontal nystagmus, gaze-evoked nystagmus, and upbeat nystagmus. The other usual signs of LMI including Horner syndrome, dysarthria, swallowing difficulty, and hemibody sensory change were absent. Video head impulse indicated decreased head impulse gain of the vestibulo-ocular reflex for the bilateral horizontal, anterior, and posterior semicircular canals with abnormal saccade waves. Suppression head impulse paradigm showed few downward saccades reflecting anti-compensatory saccades after the end of the head impulse back to the head-fixed target and decreased vestibulo-ocular reflex gain values of bilateral semicircular canals. Brain magnetic resonance imaging (MRI) showed a small infarct in the far dorsolateral portion of the left rostral medulla. The cerebrospinal fluid was positive for VZV DNA.
Conclusions: In patients with VZV infection who develop dizziness, the possibility of cerebral infarct should be considered. Patients with facial herpes zoster and neurological symptoms always be screened for stroke using MRI and lumbar puncture should be performed and acyclovir administered empirically.
{"title":"Case Report: Isolated Vertigo as the Sole Manifestation of Left Lateral Medullary Infarction Following Contralateral Varicella-Zoster Virus Infection.","authors":"Ning Zhao, Yong Zhao, Mingze Chang, Gejuan Zhang, Ying Lu, Shilin Li, Juan Ma, QianQian Qi","doi":"10.1177/11795476241262213","DOIUrl":"10.1177/11795476241262213","url":null,"abstract":"<p><strong>Background: </strong>Cerebral infarct associated with varicella-zoster virus (VZV) has been reported in the literature, while isolated central dizziness due to lateral medullary infarct (LMI) following VZV infection is rarely reported.</p><p><strong>Case report: </strong>We report the case of a 65-year-old man who presented to the neurology department because of herpes zoster on the right trigeminal nerve distribution. At 12 hours after admission, he developed transient vertigo along with nausea and unsteady walking and left-sided spontaneous horizontal nystagmus, gaze-evoked nystagmus, and upbeat nystagmus. The other usual signs of LMI including Horner syndrome, dysarthria, swallowing difficulty, and hemibody sensory change were absent. Video head impulse indicated decreased head impulse gain of the vestibulo-ocular reflex for the bilateral horizontal, anterior, and posterior semicircular canals with abnormal saccade waves. Suppression head impulse paradigm showed few downward saccades reflecting anti-compensatory saccades after the end of the head impulse back to the head-fixed target and decreased vestibulo-ocular reflex gain values of bilateral semicircular canals. Brain magnetic resonance imaging (MRI) showed a small infarct in the far dorsolateral portion of the left rostral medulla. The cerebrospinal fluid was positive for VZV DNA.</p><p><strong>Conclusions: </strong>In patients with VZV infection who develop dizziness, the possibility of cerebral infarct should be considered. Patients with facial herpes zoster and neurological symptoms always be screened for stroke using MRI and lumbar puncture should be performed and acyclovir administered empirically.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"17 ","pages":"11795476241262213"},"PeriodicalIF":1.0,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11185004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141418188","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}
Pub Date : 2024-06-04eCollection Date: 2024-01-01DOI: 10.1177/11795476241258888
Somaye Rezaian, Mohamad Rezaian, Ali Hosseinpour
The COVID-19 pandemic has had an enormous impact on the healthcare systems. Along with its common complications, novel complications such as Rectus Sheath Hematoma (RSH) have been reported. We present 2 cases of RSH. (A) A 63-year-old woman with a known case of COVID-19 with severe cough presented sudden tachycardia and hypogastric pain; on physical examination, a huge lower abdominal tender mass was noticed. All the differential diagnoses were ruled out. (B) A 57-year-old woman with COVID-19 started complaining of tachycardia, pain, and a mass in the lower abdomen. On the physical examination, a lower abdominal tender mass was noticed. Both of the patients underwent an abdomen CT scan which confirmed a huge RSH. Conservative treatment and cessation of anticoagulant medications were continued. Both of them recovered and no evidence of further expansion was seen after 4 weeks of follow-up.
{"title":"A Novel Complication in COVID-19 Patients: Case Report of Rectus Sheath Hematoma.","authors":"Somaye Rezaian, Mohamad Rezaian, Ali Hosseinpour","doi":"10.1177/11795476241258888","DOIUrl":"10.1177/11795476241258888","url":null,"abstract":"<p><p>The COVID-19 pandemic has had an enormous impact on the healthcare systems. Along with its common complications, novel complications such as Rectus Sheath Hematoma (RSH) have been reported. We present 2 cases of RSH. (A) A 63-year-old woman with a known case of COVID-19 with severe cough presented sudden tachycardia and hypogastric pain; on physical examination, a huge lower abdominal tender mass was noticed. All the differential diagnoses were ruled out. (B) A 57-year-old woman with COVID-19 started complaining of tachycardia, pain, and a mass in the lower abdomen. On the physical examination, a lower abdominal tender mass was noticed. Both of the patients underwent an abdomen CT scan which confirmed a huge RSH. Conservative treatment and cessation of anticoagulant medications were continued. Both of them recovered and no evidence of further expansion was seen after 4 weeks of follow-up.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"17 ","pages":"11795476241258888"},"PeriodicalIF":1.0,"publicationDate":"2024-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11149433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141247784","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}
Pub Date : 2024-05-31eCollection Date: 2024-01-01DOI: 10.1177/11795476241255563
Ana Rosas Herrera, Ashley B Parker, Mark Chaskes, Frederic Askin, Aurelia S Monk, John R Stephens, Brian D Thorp, Charles S Ebert, Brent A Senior, Adam J Kimple, Keonho A Kong
Infratemporal fossa (ITF) tumors are rare in children and may present with a variety of symptoms. Teratomas are neoplasms derived from the 3 germ layers and approximately 6% to 10% are within the head and neck. Our study discusses one of the first reported cases of teratoma in the ITF in a pediatric patient. A 3-year-old girl presents with 2 years of recurrent monthly left periorbital swelling accompanied by fevers, skin discoloration, and pain. Prior episodes were treated with antibiotics with incomplete resolution. Imaging revealed a cystic lesion centered in the ITF. She was taken for endoscopic endonasal biopsy of the lesion and had no complications. Pathology revealed a mature teratoma composed primarily of pancreatic tissue. Providers should consider masses such as teratoma in the differential for ITF tumors and periorbital edema unresponsive to typical treatment.
{"title":"Unilateral Periorbital Swelling in a Pediatric Patient.","authors":"Ana Rosas Herrera, Ashley B Parker, Mark Chaskes, Frederic Askin, Aurelia S Monk, John R Stephens, Brian D Thorp, Charles S Ebert, Brent A Senior, Adam J Kimple, Keonho A Kong","doi":"10.1177/11795476241255563","DOIUrl":"10.1177/11795476241255563","url":null,"abstract":"<p><p>Infratemporal fossa (ITF) tumors are rare in children and may present with a variety of symptoms. Teratomas are neoplasms derived from the 3 germ layers and approximately 6% to 10% are within the head and neck. Our study discusses one of the first reported cases of teratoma in the ITF in a pediatric patient. A 3-year-old girl presents with 2 years of recurrent monthly left periorbital swelling accompanied by fevers, skin discoloration, and pain. Prior episodes were treated with antibiotics with incomplete resolution. Imaging revealed a cystic lesion centered in the ITF. She was taken for endoscopic endonasal biopsy of the lesion and had no complications. Pathology revealed a mature teratoma composed primarily of pancreatic tissue. Providers should consider masses such as teratoma in the differential for ITF tumors and periorbital edema unresponsive to typical treatment.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"17 ","pages":"11795476241255563"},"PeriodicalIF":1.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11143867/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141199560","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}
Pub Date : 2024-05-24eCollection Date: 2024-01-01DOI: 10.1177/11795476241256213
[This corrects the article DOI: 10.1177/11795476231173503.].
[This corrects the article DOI: 10.1177/11795476231173503.].
{"title":"Corrigendum to \"Blue Rubber Bleb Nevus Syndrome Presenting as Anemia, Hemorrhage, and Hemangiomas: A Rare Case Report\".","authors":"","doi":"10.1177/11795476241256213","DOIUrl":"https://doi.org/10.1177/11795476241256213","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1177/11795476231173503.].</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"17 ","pages":"11795476241256213"},"PeriodicalIF":1.0,"publicationDate":"2024-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11127569/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141154455","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}
Superior Mesenteric Artery Syndrome (SMAS) is a rare but potentially life-threatening condition caused by the compression of the duodenum by the superior mesenteric artery. We report a case of an 11-year-old male who complaint of abdominal pain and intermittent vomiting for last 3 weeks. Diagnosis of SMAS was made with the help of radiological findings. The patient was managed conservatively with nutritional support, prokinetic agents, and stomach decompression. After 2 weeks of treatment, the patient's symptoms improved, and he was discharged from the hospital.
{"title":"Superior Mesenteric Artery Syndrome in an 11-Year-Old Boy: A Case Report.","authors":"Sakar Babu Gharti, Nischal Shrestha, Kaushal Samsher Thapa, Rajat Shah, Priti Khanal, Rajnish Kumar Shah, Sanjeeb Babu Gharti, Umesh Tiwari","doi":"10.1177/11795476241257036","DOIUrl":"10.1177/11795476241257036","url":null,"abstract":"<p><p>Superior Mesenteric Artery Syndrome (SMAS) is a rare but potentially life-threatening condition caused by the compression of the duodenum by the superior mesenteric artery. We report a case of an 11-year-old male who complaint of abdominal pain and intermittent vomiting for last 3 weeks. Diagnosis of SMAS was made with the help of radiological findings. The patient was managed conservatively with nutritional support, prokinetic agents, and stomach decompression. After 2 weeks of treatment, the patient's symptoms improved, and he was discharged from the hospital.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"17 ","pages":"11795476241257036"},"PeriodicalIF":1.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11119349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141154490","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}
Pub Date : 2024-05-15eCollection Date: 2024-01-01DOI: 10.1177/11795476241253106
Julieth Vivian Sarmiento Palma, Santiago Sambracos Parrado, Maria Camila Echeverria, Paula Ruiz Talero
We report the case of a 27-year-old man with transthyretin amyloidosis secondary to the p.Val142Ile mutation with an atypical clinical presentation of predominantly lower limb polyneuropathy without cardiac involvement. p.Val142Ile is mainly associated with cardiopathy, whereas the neuropathic phenotype is mainly associated with p.Val50Met. Our patient belongs to a non-endemic region and due to his lack of support network a possible familial component is unknown. His case represents a diagnostic challenge given the wide heterogeneity of clinical manifestations associated with the disease, with other possible diagnoses of polyneuropathy being reasonably excluded according to prevalence and frequency. The particularly unusual genotype-phenotype association distinguishes this case from the classic description of transthyretin amyloidosis secondary to p.Val142Ile.
{"title":"Polyneuropathy as an initial manifestation of Hereditary Transtyretin Amyloidosis (ATTRV) in a young patient: Case report of a diagnostic challenge.","authors":"Julieth Vivian Sarmiento Palma, Santiago Sambracos Parrado, Maria Camila Echeverria, Paula Ruiz Talero","doi":"10.1177/11795476241253106","DOIUrl":"https://doi.org/10.1177/11795476241253106","url":null,"abstract":"<p><p>We report the case of a 27-year-old man with transthyretin amyloidosis secondary to the p.Val142Ile mutation with an atypical clinical presentation of predominantly lower limb polyneuropathy without cardiac involvement. p.Val142Ile is mainly associated with cardiopathy, whereas the neuropathic phenotype is mainly associated with p.Val50Met. Our patient belongs to a non-endemic region and due to his lack of support network a possible familial component is unknown. His case represents a diagnostic challenge given the wide heterogeneity of clinical manifestations associated with the disease, with other possible diagnoses of polyneuropathy being reasonably excluded according to prevalence and frequency. The particularly unusual genotype-phenotype association distinguishes this case from the classic description of transthyretin amyloidosis secondary to p.Val142Ile.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"17 ","pages":"11795476241253106"},"PeriodicalIF":1.0,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11097722/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140956213","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}
Pub Date : 2024-05-14eCollection Date: 2024-01-01DOI: 10.1177/11795476241254266
Ming-Ming Li, Zhi-Min Cen, Huang Zhang, Zhong-Ling Luo
Meige syndrome is a rare neurological disease characterized by segmental dystonia, specifically blepharospasm and oromandibular dystonia. These symptoms are often accompanied by complex movements of the eyelids, lower facial muscles, mandible, and neck muscles. Bilateral blepharospasm is the most common feature of this disease. In this case report, we present the successful treatment of refractory blepharospasm in a 72-year-old woman with Meige syndrome via 2 incisions resulting from myectomy and in situ surgery.
{"title":"Surgical Myectomy and Myotomy for Refractory Blepharospasm in Meige Syndrome Patients: A Case Report.","authors":"Ming-Ming Li, Zhi-Min Cen, Huang Zhang, Zhong-Ling Luo","doi":"10.1177/11795476241254266","DOIUrl":"10.1177/11795476241254266","url":null,"abstract":"<p><p>Meige syndrome is a rare neurological disease characterized by segmental dystonia, specifically blepharospasm and oromandibular dystonia. These symptoms are often accompanied by complex movements of the eyelids, lower facial muscles, mandible, and neck muscles. Bilateral blepharospasm is the most common feature of this disease. In this case report, we present the successful treatment of refractory blepharospasm in a 72-year-old woman with Meige syndrome via 2 incisions resulting from myectomy and in situ surgery.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"17 ","pages":"11795476241254266"},"PeriodicalIF":1.0,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11095178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140943167","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}