American Journal of Case Reports最新文献_第8页

Unveiling Pheochromocytoma: A Puzzling Prelude of Nausea, Vomiting, and Abdominal Pain. 揭开嗜铬细胞瘤的神秘面纱：令人费解的恶心、呕吐和腹痛前奏。

IF 1

American Journal of Case Reports Pub Date : 2024-09-07 DOI: 10.12659/AJCR.943875

Hannah R Klatzkow, Qi Cai, Ariel W Aday

{"title":"Unveiling Pheochromocytoma: A Puzzling Prelude of Nausea, Vomiting, and Abdominal Pain.","authors":"Hannah R Klatzkow, Qi Cai, Ariel W Aday","doi":"10.12659/AJCR.943875","DOIUrl":"10.12659/AJCR.943875","url":null,"abstract":"BACKGROUND Pheochromocytomas, rare tumors arising from the adrenal medulla, can present with highly variable symptoms; therefore, pheochromocytomas frequently remain undiagnosed, leaving the potential for physiological complications. Acutely, these complications include pheochromocytoma crisis, in which high levels of catecholamines are released and cause a life-threatening hypertensive emergency. Over time, undiagnosed pheochromocytomas can lead to cardiovascular damage and end-organ disease related to chronic exposure to elevated blood pressure. CASE REPORT We share a case of pheochromocytoma in a 45-year-old woman who presented with gastrointestinal symptoms of intractable nausea, vomiting, and abdominal pain. Imaging revealed an adrenal mass that had radiographic features that were most consistent with myelolipoma. Before exposing the patient to anesthesia and endoscopy for further diagnostic workup of her gastrointestinal symptoms, which can trigger a catecholamine surge in individuals with a pheochromocytoma, further biochemical testing was performed. Testing of plasma and urine confirmed pheochromocytoma, and surgical resection was performed for definitive treatment. Ultimately, the patient had resolution of her symptoms following the removal of the tumor. CONCLUSIONS The resolution of symptoms following surgical resection suggests that symptoms may have been related to the mass effect of the tumor or as an atypical manifestation of increased catecholamine levels. Additionally, by screening for pheochromocytoma, the patient was able to avoid potential complications that can result from common gastroenterological diagnostic procedures. This case report highlights the potential benefit for screening for pheochromocytoma when faced with symptoms that may be non-specific or related to mass effect upon surrounding organs.","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11384675/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142146499","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

Pediatric Pyloric Transection: An Unusual Injury Following Blunt Abdominal Trauma. 小儿幽门横断：腹部钝性创伤后的异常损伤

IF 1

American Journal of Case Reports Pub Date : 2024-09-06 DOI: 10.12659/AJCR.944624

Saud Aljadaan, Rahaf Y Ardah, Raseel A Alsubaie, Suliaman Alaqeel

{"title":"Pediatric Pyloric Transection: An Unusual Injury Following Blunt Abdominal Trauma.","authors":"Saud Aljadaan, Rahaf Y Ardah, Raseel A Alsubaie, Suliaman Alaqeel","doi":"10.12659/AJCR.944624","DOIUrl":"10.12659/AJCR.944624","url":null,"abstract":"BACKGROUND The pediatric population, due to its distinct anatomy and physiology, often presents with unique mechanisms of trauma, leading clinicians to encounter diverse and sometimes unexpected injuries. Whether these injuries result from blunt or penetrating trauma, they may involve intra-abdominal organs in pediatric patients. Additionally, there are occasional occurrences where injuries affect rare sites such as the pylorus in an isolated manner within this age group. Clinicians must be prepared to address a wide range of injury patterns to ensure optimal outcomes for pediatric patients experiencing trauma to intra-abdominal structures such as the pylorus. CASE REPORT We report a 19-month-old boy who presented with abdominal pain, crying, and repeated vomiting of gastric contents after a wardrobe fell on his upper torso. His vital signs were stable except that he was tachycardiac. Upon investigation, abdominal computed tomography (CT) revealed pneumoperitoneum, free peritoneal fluid, and inflammatory changes in the intestinal wall, suggesting hollow viscus injury. Exploratory laparotomy was performed, and complete transection of the pyloric area of the stomach was identified. The pancreatic and biliary ducts were intact. On postoperative day 5, an upper gastrointestinal (UGI) contrast study prior to initiating oral feeding was done and showed normal findings with no contrast leakage. His postoperative course was unremarkable. CONCLUSIONS Isolated pyloric injuries following blunt trauma are rare with no known case reports in pediatric age group. High morbidity and mortality rates can result from traumatic gastrointestinal injuries including the involvement of pylorus. Therefore, accurate diagnosis and prompt management are essential for an improved outcome.","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11384676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141321","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

Hydrogel-Based Dressings and Multidisciplinary Care in Severe Pediatric Burns: A Case Report of Successful Healing and Hypertrophic Scar Prevention. 严重儿童烧伤的水凝胶敷料和多学科护理：成功愈合和预防肥厚性疤痕的病例报告。

IF 1

American Journal of Case Reports Pub Date : 2024-09-05 DOI: 10.12659/AJCR.944021

Yasser Ali Badereldien, Ghaleb Abdo Al-Mekhlafi

{"title":"Hydrogel-Based Dressings and Multidisciplinary Care in Severe Pediatric Burns: A Case Report of Successful Healing and Hypertrophic Scar Prevention.","authors":"Yasser Ali Badereldien, Ghaleb Abdo Al-Mekhlafi","doi":"10.12659/AJCR.944021","DOIUrl":"10.12659/AJCR.944021","url":null,"abstract":"BACKGROUND Pediatric burn injuries are a global health concern, particularly in infants and toddlers, who face increased risks owing to their higher water content. Despite substantial medical treatment, the mortality rates remain challenging, especially in severe cases. This study explored non-surgical interventions for pediatric burn injuries, aiming to enhance care and alleviate the burden on affected children. CASE REPORT A 16-month-old boy with 30% mixed second- and third-degree burns presented with a scald injury. Initial measures included dressing and analgesia. The Plastic Surgery team led the treatment. Upon admission, the patient experienced convulsions due to hyponatremia in the burn unit and was subsequently transferred to the Pediatric Intensive Care Unit (PICU). Burn care management included the use of hyaluronic acid and occupational therapy. Scheduled dressing changes, including the use of glycerin-based dressings, resulted in satisfactory wound healing. Split skin grafting from the right thigh was performed to prevent elbow joint contracture. Preventive measures against hypertrophic scarring were also implemented. The patient was discharged after follow-up appointments. Consent for publication of case details and photographs was obtained from the patient's father. CONCLUSIONS The presented non-surgical approach, incorporating hyaluronic acid, Bactigras, Elasto-Gel, and a multidisciplinary team, can effectively treat mixed partial- and full-thickness burn injuries in pediatric populations. Split-thickness grafts may be required in functional areas. Therefore, a comprehensive management strategy that considers tissue damage, electrolyte balance, and infection is crucial. This report underscores the importance of meticulous assessment and correction of overall patient condition, especially in pediatric cases of electrolyte imbalance.","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11384673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134129","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

Optimal Airway Management in Severe Maxillofacial Trauma: A Case Report on Submental Intubation. 严重颌面部创伤的最佳气道管理：颌下插管病例报告。

IF 1

American Journal of Case Reports Pub Date : 2024-09-04 DOI: 10.12659/AJCR.944387

Ahmad Alsaka Amini, Abeer Alzuabi, Palna Kulkarni, Wala Sharif Ahmed, Mahmoud Salem Helal, Najah Albayedh, Amjad Zaaroura, Raneen Essale

{"title":"Optimal Airway Management in Severe Maxillofacial Trauma: A Case Report on Submental Intubation.","authors":"Ahmad Alsaka Amini, Abeer Alzuabi, Palna Kulkarni, Wala Sharif Ahmed, Mahmoud Salem Helal, Najah Albayedh, Amjad Zaaroura, Raneen Essale","doi":"10.12659/AJCR.944387","DOIUrl":"10.12659/AJCR.944387","url":null,"abstract":"BACKGROUND Submental intubation, a technique often considered a good alternative for managing the airway in challenging maxillofacial surgical scenarios, plays a pivotal role in providing accessibility to the surgical site and ensuring airway safety, particularly in cases involving facial fractures. This innovative approach not only grants surgeons adequate access to the operative field but also mitigates potential complications associated with traditional intubation methods, making it a valuable tool in dealing with complex facial trauma cases. CASE REPORT A 37-year-old man arrived at the Emergency Department (ED) with a severe facial injury caused from a traumatic incident involving a falling concrete wall, resulting in severe facial injuries that included multiple lacerations and abrasions on his face and body. The patient presented with multiple facial and body lacerations and abrasions, necessitating prompt medical intervention. The ED team swiftly treated the facial lacerations, controlled the bleeding, stabilized the patient, and proceeded to secure the airway through orotracheal intubation. Following stabilization, the patient was transferred to the operation theater (OT) for further management of his extensive pan-facial fractures under general anesthesia, utilizing the submental intubation technique for airway management. CONCLUSIONS Despite its limited use, submental intubation is a good option for some maxillofacial surgeries, offering a less intrusive approach to airway management and presenting an alternative pathway to the conventional endotracheal intubation technique. Its ability to streamline procedures, enhance patient outcomes, and reduce complications underscores the importance of considering submental intubation as a valuable tool in dealing with complex maxillofacial cases.","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11384674/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142126817","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

Rare Right Ventricular Calcified Amorphous Tumor Mimicking Malignancy: A Case Report. 罕见的右心室钙化无定形瘤模仿恶性肿瘤：病例报告。

IF 1

American Journal of Case Reports Pub Date : 2024-09-03 DOI: 10.12659/AJCR.943908

Ka Chun Lu, Cuixian Xie, Jie Chen, Zhongsheng Kuang, Rui Peng

{"title":"Rare Right Ventricular Calcified Amorphous Tumor Mimicking Malignancy: A Case Report.","authors":"Ka Chun Lu, Cuixian Xie, Jie Chen, Zhongsheng Kuang, Rui Peng","doi":"10.12659/AJCR.943908","DOIUrl":"10.12659/AJCR.943908","url":null,"abstract":"BACKGROUND Cardiac calcified amorphous tumor (CCAT), a peculiar and uncommon non-neoplastic cardiac lesion, was initially characterized by Reynolds and colleagues in the medical literature in 1997. This distinctive entity is hallmarked by its unique feature of pedunculated and diffused calcifications, primarily infiltrating the cardiac structures, with a predilection for the mitral valve annulus initially, followed in sequence by the right atrium, right ventricle, left atrium, left ventricle, and tricuspid valve annulus. The nature of CCATs, despite being benign, poses diagnostic dilemmas, as they frequently masquerade as malignant tumors due to their clinical presentations, which resemble those caused by potential complications such as obstructive masses and thromboembolic events. CASE REPORT A 50-year-old man presented to our hospital with shortness of breath. He had been short of breath for more than 5 years after repeated activities. Transthoracic echocardiography showed a mobile high echogenic mass from the middle of the right ventricular wall and pericardial effusion and right heart insufficiency. The electrocardiogram (ECG) results demonstrated a sinus rhythm, complete right bundle branch block, and T-wave alterations. Additionally, the chest computed tomography (CT) scan revealed a slightly enlarged heart with a lack of density and calcification in the right ventricle. He had an uneventful postoperative recovery after the resection of the cardiac tumor. The mass had not continued to grow when we compared it with preoperative cardiac color doppler echocardiography, after 3 months follow-up. CONCLUSIONS CCAT is a rare non-neoplastic cardiac entity. Diagnosis of CCAT poses a challenge due to the absence of distinct clinical features and its frequent misidentification as a malignant tumor mimic. Surgical resection serves as the sole treatment for symptom relief.","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380921/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142120823","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

Statin-Induced Autoimmune Myopathy: A Diagnostic Challenge in Muscle Weakness. 他汀类药物诱发的自身免疫性肌病：肌肉无力的诊断难题。

IF 1

American Journal of Case Reports Pub Date : 2024-09-02 DOI: 10.12659/AJCR.944261

Maryam Barkhordarian, Mark Grijalva, Albert Lee, Amer Jarri, Anna Belyayeva, Simcha Weissman

{"title":"Statin-Induced Autoimmune Myopathy: A Diagnostic Challenge in Muscle Weakness.","authors":"Maryam Barkhordarian, Mark Grijalva, Albert Lee, Amer Jarri, Anna Belyayeva, Simcha Weissman","doi":"10.12659/AJCR.944261","DOIUrl":"10.12659/AJCR.944261","url":null,"abstract":"BACKGROUND Statin-induced myopathy can present with symptoms ranging from mild myalgia to significant muscle weakness. Muscle-related adverse effects of statins have been very challenging in clinical practice and they necessitate high clinical suspicion. This case report highlights how statin-induced autoimmune myopathy often goes undiagnosed. CASE REPORT We present a 69-year-old man with a past medical history of coronary artery disease who presented with myalgia and progressive proximal muscle weakness for 2 months, with a creatinine kinase of 8323 U/L. Atorvastatin was held on admission and the patient received intravenous (IV) fluid as treatment for presumed rhabdomyolysis. Although CK was trending down, he did not show significant improvement in muscle weakness or myalgia. At this point, myositis was suspected, so a myositis panel including anti-HMG Co-A reductase antibody was ordered and he was started on IV steroids. Anti-HMG Co-A reductase antibody was positive, and the rest of myopathy workup was negative. Meanwhile, the patient's muscle weakness significantly improved with IV steroid. He was discharged on methylprednisolone with close outpatient rheumatology follow-up. CONCLUSIONS Muscle-related adverse effects of statins, including rhabdomyolysis and myopathy, can fail to respond to conservative management. It is crucial to identify and manage statin-induced autoimmune myopathy as a possible differential diagnosis in patients with muscle weakness and elevated CK while on statin therapy who do not respond to intravenous fluid alone.","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380920/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142113036","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

A Challenging Diagnosis of HHV-8-Associated Diffuse Large B-Cell Lymphoma, Not Otherwise Specified, in a Young Man with Newly-Diagnosed HIV. 一名新诊断为艾滋病病毒感染者的年轻人被确诊为HHV-8相关的弥漫性大B细胞淋巴瘤（未另作说明），这很有挑战性。

IF 1

American Journal of Case Reports Pub Date : 2024-09-01 DOI: 10.12659/AJCR.945162

Ami Dave, Michael Schwartz, Jeremy Van, Laura Owczarzak, Ira Miller, Shivi Jain

{"title":"A Challenging Diagnosis of HHV-8-Associated Diffuse Large B-Cell Lymphoma, Not Otherwise Specified, in a Young Man with Newly-Diagnosed HIV.","authors":"Ami Dave, Michael Schwartz, Jeremy Van, Laura Owczarzak, Ira Miller, Shivi Jain","doi":"10.12659/AJCR.945162","DOIUrl":"10.12659/AJCR.945162","url":null,"abstract":"BACKGROUND Human herpesvirus-8 (HHV-8)-associated diffuse large B-cell lymphoma, not otherwise specified (DLBCL, NOS), is a rare form of lymphoid malignancy. It poses unique challenges in diagnosis in the setting of human immunodeficiency virus (HIV) infection and concomitant multiorgan dysfunction. CASE REPORT We describe the case of a 26-year-old man who initially presented with pre-syncope and was found to have HIV, with a CD-4 count of 20 cells/μL. His initial clinical presentation was significant for nonspecific symptoms, isolated anemia, and bilateral pleural effusions without gross lymphadenopathy, which was initially attributed to acute HIV infection. However, his hospital course was complicated by anasarca, renal failure, liver dysfunction, pancytopenia, and microscopic hematuria, which required a more comprehensive diagnostic evaluation. Progressive pancytopenia prompted a bone marrow biopsy, which ultimately revealed HHV-8-associated DLBCL, NOS (HDN). We describe his complicated hospital course and eventual diagnosis of HDN. This patient's broad differential diagnoses and overlap among various clinical syndromes posed a significant diagnostic challenge. Additionally, his multiorgan failure limited his treatment options. CONCLUSIONS The management of HHV-8-associated DLBCL, NOS is complex, requiring a multifaceted approach to ensure prompt diagnosis and treatment, especially given difficulty in arriving at an accurate diagnosis due to the significant overlap with other lymphoproliferative disorders and lack of standardized treatment. We highlight the challenges and paucity of data available for management of HDN in the context of a diagnostically challenging case. We discuss the current limitations in diagnosis and treatment of this rare malignancy and the necessity of further investigation, especially in medically complex patients.","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11378431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142113032","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

Chronic Myeloid Leukemia with a Rare Philadelphia Chromosome Variant Involving Chromosome 16. 慢性髓性白血病伴有罕见的费城染色体变异，涉及 16 号染色体。

IF 1

American Journal of Case Reports Pub Date : 2024-08-31 DOI: 10.12659/AJCR.944641

Salem M Bahashwan

{"title":"Chronic Myeloid Leukemia with a Rare Philadelphia Chromosome Variant Involving Chromosome 16.","authors":"Salem M Bahashwan","doi":"10.12659/AJCR.944641","DOIUrl":"10.12659/AJCR.944641","url":null,"abstract":"BACKGROUND Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by the presence of the Philadelphia (Ph) chromosome, which results from the fusion of the translocation of the ABL1 gene from chromosome 9 to the BCR gene located in chromosome 22, forming the BCR-ABL gene on chromosome number 22, which accounts for approximately 95% of CML cases. Complex translocation involving other chromosomes can occur. CASE REPORT We present a rare case of CML with a variant Ph chromosome, in which chromosome 16 was involved with the usual translocation. A 34-year-old woman presented with a history of left upper quadrant pain and excessive sweating, with no hepatosplenomegaly on examination. She was found to have leukocytosis, with elevated neutrophils (34 000/mm³), basophils (1460/mm³), and eosinophils (2650/mm³). Karyotyping showed a translocation (16;22) (q24,q11.2), and FISH analysis showed BCR-ABL fusion as a result of (9,22) translocation, with a third chromosome (chromosome 16) involved and fused with chromosome 22, with a different breakpoint, which has never been reported in the literature, affecting the long arm of chromosome 16. The patient was treated with a first-generation tyrosine kinase inhibitor (imatinib) and achieved a deep molecular remission. The repeated FISH analysis confirmed the disappearance of both translocations (9,22) and (16,22). CONCLUSIONS The impact of the additional chromosomal aberration in CML is widely heterogeneous, and the outcome is dependent on multiple factors. Larger studies are needed to clarify the outcome in CML with variant Ph chromosomes, as most of the available data come from reported cases.","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11373876/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142113034","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

Concurrent Gitelman Syndrome and Hyperthyroidism: Diagnostic Challenges in a 51-Year-Old Patient. 吉特曼综合征与甲状腺功能亢进症并发症：一名 51 岁患者的诊断难题。

IF 1

American Journal of Case Reports Pub Date : 2024-08-30 DOI: 10.12659/AJCR.944909

Yan Zhang, Hao Yu, Jun Li, Ling Cheng

{"title":"Concurrent Gitelman Syndrome and Hyperthyroidism: Diagnostic Challenges in a 51-Year-Old Patient.","authors":"Yan Zhang, Hao Yu, Jun Li, Ling Cheng","doi":"10.12659/AJCR.944909","DOIUrl":"10.12659/AJCR.944909","url":null,"abstract":"BACKGROUND Gitelman syndrome (GS) is an uncommon autosomal recessive inherited disease caused by inactivating mutations in the SLC12A3 gene located on chromosome 16q13, resulting in distal tubular dysfunction. Most cases are detected during routine examinations in adulthood, due to hypokalemia and alkalosis. GS needs to be distinguished from diseases that cause hypokalemia, such as Classic Bartter syndrome and hyperthyroidism. In individual cases, GS and hyperthyroidism occur simultaneously, which is prone to misdiagnosis. CASE REPORT A 51-year-old woman with intermittent palpitations and lower limb fatigue for 4 years received a diagnosis of hypokalemia at a local hospital. Treatment with potassium supplementation did not improve the patient's palpitations and fatigue. After coming to our hospital for examination, it was found that the patient had hyperthyroidism. After receiving treatment of hyperthyroidism remission and sufficient potassium replacement, the patient's serum potassium level remained low. Meanwhile, the patient had hypomagnesemia and metabolic alkalosis. Subsequently, according to our suggestion, the patient continued to take oral supplements of potassium and magnesium, while also started on spironolactone. We convinced the patient to undergo genetic testing and discovered compound heterozygous mutations in the SLC12A3 gene, which presented a definitive diagnosis of GS. In the following 3 months, the patient's serum potassium level was within the normal range, and the dose of methimazole was reduced. CONCLUSIONS As a rare disease, GS may have only mild or occasional manifestations, making it prone to misdiagnosis. GS remains therapeutically challenging, and future progress in treatment will depend on further research of the disease.","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11370197/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142113035","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 PFAPA Syndrome: Successful Management with Colchicine. 成人发病型 PFAPA 综合征：用秋水仙碱成功治疗。

IF 1

American Journal of Case Reports Pub Date : 2024-08-29 DOI: 10.12659/AJCR.943658

Amulya Balagani, Farina Tariq, Muhammad Zaheer

{"title":"Adult-Onset PFAPA Syndrome: Successful Management with Colchicine.","authors":"Amulya Balagani, Farina Tariq, Muhammad Zaheer","doi":"10.12659/AJCR.943658","DOIUrl":"10.12659/AJCR.943658","url":null,"abstract":"BACKGROUND Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is an autoinflammatory fever syndrome primarily seen in children under age 5 years, and its etiology is unknown. Most cases are resolved by the age of 10 years, and it is rare in adults. PFAPA is characterized by recurrent episodes of fever associated with pharyngitis, stomatitis, and cervical adenitis, although not all clinical features are present at initial evaluation. Diagnosis is made clinically, as there are no specific biomarkers available. Treatment includes prednisone, colchicine, interleukin-1 blockers, and tonsillectomy. We report a case of adult-onset PFAPA syndrome that responded to colchicine. CASE REPORT A 22-year-old woman presented to the Rheumatology Clinic for evaluation of recurrent fevers associated with sore throat and enlarged painful cervical lymph nodes. She was symptom-free between the episodes. Workup for infectious causes and autoinflammatory/autoimmune diseases was unremarkable. Various differential diagnoses were considered, due to her unusual presentation. After all were ruled out, PFAPA was diagnosed based on her symptoms, and she started steroids, to which she had a dramatic response and resolution of symptoms. She was then transitioned to oral colchicine, which significantly decreased flare frequency. CONCLUSIONS Being aware of PFAPA syndrome in adults is vital. A timely diagnosis can significantly improve a patient's quality of life. This case highlights the importance of considering PFAPA syndrome in the differential diagnosis of periodic febrile illnesses in adults and the role of Colchicine as prophylaxis. Larger studies are needed to understand etiopathogenesis better and develop other effective therapeutics.","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11370285/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142113033","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