Journal of investigative medicine high impact case reports最新文献_第8页

Subcutaneous Panniculitis-Like T-Cell Lymphoma With Hemophagocytic Lymphohistiocytosis. 伴有嗜血细胞淋巴组织细胞增多症的皮下泛发性T细胞淋巴瘤

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241253337

Nhu Tung Tran, Khac Tuyen Nguyen, Linh Thi Le, Khuyen Thi Nguyen, Cong Thao Trinh, Van Trung Hoang

{"title":"Subcutaneous Panniculitis-Like T-Cell Lymphoma With Hemophagocytic Lymphohistiocytosis.","authors":"Nhu Tung Tran, Khac Tuyen Nguyen, Linh Thi Le, Khuyen Thi Nguyen, Cong Thao Trinh, Van Trung Hoang","doi":"10.1177/23247096241253337","DOIUrl":"10.1177/23247096241253337","url":null,"abstract":"Subcutaneous panniculitis-like T-cell lymphoma (SPTLP), a unique variant of primary cutaneous T-cell lymphomas, clinically mimics subcutaneous panniculitis. It is typified by the development of multiple plaques or subcutaneous erythematous nodules, predominantly on the extremities and trunk. Epidemiological findings reveal a greater incidence in females than males, affecting a wide demographic, including pediatric and adult cohorts, with a median onset age of around 30 years. Diagnosis of SPTLP is complex, hinging on skin biopsy analyses and the identification of T-cell lineage-specific immunohistochemical markers. Treatment modalities for SPTLP are varied; while corticosteroids may be beneficial initially for many patients, a substantial number require chemotherapy, especially in cases of poor response or relapse. Generally, SPTLP progresses slowly, yet approximately 20% of cases advance to hemophagocytic lymphohistiocytosis (HLH), often correlating with a negative prognosis. We report a case of a young male patient presenting with prolonged fever, multiple skin lesions accompanied by HLH, a poor clinical course, and eventual death, diagnosed postmortem with SPTLP. In addition, we also present a literature review of the current evidence of some updates related to SPTLP.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241253337"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11095181/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140922463","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

Small Intestine Gastrointestinal Clear Cell Sarcoma: A Case Report and Review of the Literature. 小肠胃肠道透明细胞肉瘤：病例报告和文献综述。

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096231225869

Manel Njima, Bahaeddine Lahbacha, Sadok Ben Jabra, Amani Moussa, Ahlem Bellalah, Nouha Ben Abdeljelil, Seifeddine Ben Hammouda, Leila Njim, Rim Hadhri, Abdelfattah Zakhama

{"title":"Small Intestine Gastrointestinal Clear Cell Sarcoma: A Case Report and Review of the Literature.","authors":"Manel Njima, Bahaeddine Lahbacha, Sadok Ben Jabra, Amani Moussa, Ahlem Bellalah, Nouha Ben Abdeljelil, Seifeddine Ben Hammouda, Leila Njim, Rim Hadhri, Abdelfattah Zakhama","doi":"10.1177/23247096231225869","DOIUrl":"10.1177/23247096231225869","url":null,"abstract":"Gastrointestinal clear cell sarcoma (GICCS)/malignant gastrointestinal neuroectodermal tumor (GNET) is an extremely rare form of cancer with aggressive clinical behavior. It has distinct pathological, immunohistochemical, ultrastructural, and molecular features. Herein, we present the case of a 20-year-old woman with no notable medical history who presented to the outpatient department with complaints of abdominal pain and vomiting. Symptoms had been evolving for 3 months. The physical examination revealed slight abdominal tenderness and melena. Biological investigations revealed iron-deficiency anemia. The upper and lower endoscopies showed no abnormalities. Magnetic resonance enterography revealed small bowel wall thickening of 15 mm × 2 mm. Exploratory laparotomy revealed an ileal mass with mesenteric lymphadenopathy. A wide resection of the mass was then performed. The final pathological report confirmed the diagnosis of small bowel GICCS/GNET. After 11 months of follow-up, the patient presented with mesenteric lymph node metastases.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096231225869"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10798064/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139478141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

An Undiagnosed Shone Complex in a 52-Year-Old Female: A Case Report. 一名 52 岁女性未确诊的 Shone Complex：病例报告。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096231218636

Lila H Abu-Hilal, Yumna Njoum, Duha I Barghouthi, Hasan Khatib, Sameer Mtour, Bilal Adwan

{"title":"An Undiagnosed Shone Complex in a 52-Year-Old Female: A Case Report.","authors":"Lila H Abu-Hilal, Yumna Njoum, Duha I Barghouthi, Hasan Khatib, Sameer Mtour, Bilal Adwan","doi":"10.1177/23247096231218636","DOIUrl":"10.1177/23247096231218636","url":null,"abstract":"Shone complex (SC) is a rare congenital heart disease characterized by four obstructive anomalies, including parachute mitral valve (PMV), left atrial supra-valvular ring, subaortic stenosis, and coarctation of the aorta. Typically, SC manifests early in life. However, we encountered a 52-year-old female with a history of hypertension diagnosed at 26 years and left-sided weakness poststroke. She presented with worsening dyspnea and palpitations, prompting a thorough investigation. Echocardiography revealed a heavily calcified bicuspid aortic valve with severe aortic stenosis and parachute mitral valve with severe mitral stenosis and preserved ejection fraction, raising suspicions regarding the presence of SC. Cardiac catheterization, aortic-angiography, and noncontrast chest computed tomography (CT) revealed abrupt occlusion of the postductal aorta, giving a picture of aortic coarctation with well-established collateral vessels including prominent right and left internal mammary arteries. So, she was diagnosed with an incomplete SC at the age of 52. Shone complex is a rare congenital heart disease that typically presents in early childhood, but late presentations due to misdiagnosis or incomplete work up are possible. This case emphasizes the rarity of late presentations of SC and highlights the importance of early diagnosis and intervention to improve outcomes. An incomplete SC should be considered in adult patients presenting with left-sided obstructive lesions.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096231218636"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10829487/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139575981","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

Sinistral Portal Hypertension Due to a Pancreatic Pseudocyst: A Rare Cause of Upper Gastrointestinal Bleeding. 胰腺假性囊肿导致的窦状门静脉高压症：上消化道出血的罕见病因。

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241231644

Lefika Bathobakae, Sacide S Ozgur, Arielle Aiken, Anas Mahmoud, Jessica Escobar, Gabriel Melki, Yana Cavanagh, Walid Baddoura

引用次数: 0

Using Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration for the Diagnosis and Treatment of a Mediastinal Mass With Eccentric Calcifications: A Case Report. 使用支气管内超声引导经支气管针吸诊断和治疗伴有偏心钙化的纵隔肿块：病例报告。

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241235534

Ruba Ghalayni, Satish Gowda

{"title":"Using Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration for the Diagnosis and Treatment of a Mediastinal Mass With Eccentric Calcifications: A Case Report.","authors":"Ruba Ghalayni, Satish Gowda","doi":"10.1177/23247096241235534","DOIUrl":"10.1177/23247096241235534","url":null,"abstract":"Mediastinal masses present a diagnostic challenge due to their similar imaging characteristics, making distinguishing between noninfectious and infectious processes or malignancies difficult. A mediastinal abscess can result in severe life-threatening infections if left untreated. Traditional treatment approaches involve surgical debridement and drainage; however, emerging endobronchial techniques, such as endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA), offer a less-invasive means of diagnosing and managing abscesses. Herein, we describe a case of a young male patient who exhibited nonspecific symptoms, including pleuritic chest pain, shortness of breath, and fever. Imaging revealed a mediastinal mass with granuloma formation. EBUS-TBNA successfully drained the abscess, and microbiology analysis confirmed the growth of Streptococcus intermedius. Subsequently, his symptoms resolved, and follow-up imaging demonstrated the resolution of the mass and associated calcifications. Further research is warranted to assess the role of EBUS-TBNA in benign mediastinal masses with granuloma formation.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241235534"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10916488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140039509","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

Paws and Pathogens: A Multidisciplinary Approach Through Bartonella henselae Endocarditis and Hepatosplenic T-Cell Lymphoma. 爪子与病原体：通过鸡巴顿氏菌心内膜炎和肝脾T细胞淋巴瘤的多学科方法。

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241262718

Zoheb Irshad Sulaiman, Mark Schwade, Jesse T Raposa, Shreya Desai, Gem Mohan, Pascha E Schafer, Ashley L Huggett

{"title":"Paws and Pathogens: A Multidisciplinary Approach Through Bartonella henselae Endocarditis and Hepatosplenic T-Cell Lymphoma.","authors":"Zoheb Irshad Sulaiman, Mark Schwade, Jesse T Raposa, Shreya Desai, Gem Mohan, Pascha E Schafer, Ashley L Huggett","doi":"10.1177/23247096241262718","DOIUrl":"10.1177/23247096241262718","url":null,"abstract":"Bartonella species are gram-negative coccobacilli that are globally recognized as significant pathogens causing zoonotic infections. Among Bartonella species, B. henselae, B. quintana, and B. bacilliformis are prominent pathogens causing infections in humans, often manifesting as infective endocarditis. Bartonella endocarditis can pose diagnostic challenges due to its indolent presentation and limitations of standard microbiological culture techniques to identify the organism. We report a case of a 23-year-old male, who initially presented with the manifestations of hepatosplenic T-cell lymphoma, later diagnosed with blood culture-negative endocarditis caused by B. henselae. The patient had a complicated clinical course including pancytopenia, hepatosplenomegaly, and severe aortic valve regurgitation. Despite negative blood cultures, diagnostic clues included persistent fevers and bicuspid aortic valve with abscess. High Bartonella IgG titers (>1:800) supported the diagnosis. This case underscores the importance of considering Bartonella species in patients with suspected endocarditis, particularly in those with predisposing factors and negative blood cultures. Diagnosis relies heavily on serologic assays due to low sensitivity of conventional culture methods. Treatment involves a multidisciplinary approach with antibiotics and surgical intervention for optimal outcomes. Timely recognition and management are crucial to mitigate the high mortality associated with Bartonella endocarditis, and we hope this article offers insight for clinicians.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241262718"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11268036/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141751875","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

Metastatic Non-Small-Cell Lung Cancer Presenting as Renal Failure From IgA Nephropathy. 转移性非小细胞肺癌表现为 IgA 肾病引起的肾衰竭

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241262515

Samer Yassin, Sruthi Athota, Afnan Khan, Vraj Patel, James Williams, Suyash Dwived

{"title":"Metastatic Non-Small-Cell Lung Cancer Presenting as Renal Failure From IgA Nephropathy.","authors":"Samer Yassin, Sruthi Athota, Afnan Khan, Vraj Patel, James Williams, Suyash Dwived","doi":"10.1177/23247096241262515","DOIUrl":"10.1177/23247096241262515","url":null,"abstract":"Studies have highlighted a potential link between malignancies and immunoglobulin A nephropathy (IgAN). In such studies, the treatment of malignancy improved the symptoms of IgAN. Here, we report a patient case involving a history of hypertension, tobacco use disorder, and chronic kidney disease (CKD) presenting with hematuria with acute renal failure secondary to IgAN per renal biopsy. Prompted by this association, a malignancy workup was performed including computed tomography (CT) body imaging and biopsies of mediastinal and cervical lymph nodes which revealed a metastatic adenocarcinoma. Current knowledge includes a general mechanism behind the development of IgAN that points toward glomerular deposition of tumor-specific immunoglobulin A (IgA) immunoglobulins. However, the association of IgAN and malignancy has no definitive management guidelines. This clinical case serves as an important contribution in the hopes of future development of guidelines regarding the surveillance and management of IgAN in the setting of malignancy.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241262515"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11295218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859956","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 Urothelial Tumors and Refractory Uremia Due to Balkan Endemic Nephropathy: A Case Report. 巴尔干地方性肾病导致的异常尿路肿瘤和难治性尿毒症：病例报告。

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241238529

Gevorg Arabyan, Raphi Hambartzhumian, Anthony Lim, Marrey Quizon, Julia Oberndorf, Michael A Sanford

{"title":"Unusual Urothelial Tumors and Refractory Uremia Due to Balkan Endemic Nephropathy: A Case Report.","authors":"Gevorg Arabyan, Raphi Hambartzhumian, Anthony Lim, Marrey Quizon, Julia Oberndorf, Michael A Sanford","doi":"10.1177/23247096241238529","DOIUrl":"10.1177/23247096241238529","url":null,"abstract":"Balkan endemic nephropathy (BEN) is a rare progressive chronic renal disease found in residents living along the Balkan peninsula. We present a 92-year-old female who complained initially of cardio-respiratory symptoms and was found to have an acute hypoxemic respiratory failure with hypervolemia. The patient underwent computed tomography imaging and was found to have bilateral pleural effusions and moderate left-sided renal atrophy with left-sided hydronephrosis. The patient underwent diuresis for fluid overload and was treated with broad-spectrum antibiotics for hospital-acquired pneumonia. Further urological work-up revealed masses in the posterior bladder wall and left ureteropelvic junction. A biopsy of the posterior bladder wall mass confirmed high-grade papillary urothelial carcinoma. A review of the epidemiological history revealed the patient lived in Kosovo/former Yugoslavia for several decades following birth. A review of old records revealed the patient had chronic kidney disease (CKD) that was not fully explained by other causes, such as hypertension or diabetes. Given the epidemiological history, accelerated CKD, and unusual locations of urothelial carcinoma, the patient was diagnosed with BEN. Despite medical management and hemodialysis, the patient's renal function and mental status continued to deteriorate, and the decision was made to proceed with palliative care measures.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241238529"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10946070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140143674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

An Unpleasant Souvenir: Whipworm as an Incidental Finding During a Screening Colonoscopy. 令人不快的纪念品在结肠镜检查中意外发现鞭虫。

IF 1.2

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096231224328

Lefika Bathobakae, Tyler Wilkinson, Saif Yasin, Rammy Bashir, Nargis Mateen, Ruhin Yuridullah, Yana Cavanagh, Walid Baddoura, Jin Suh

{"title":"An Unpleasant Souvenir: Whipworm as an Incidental Finding During a Screening Colonoscopy.","authors":"Lefika Bathobakae, Tyler Wilkinson, Saif Yasin, Rammy Bashir, Nargis Mateen, Ruhin Yuridullah, Yana Cavanagh, Walid Baddoura, Jin Suh","doi":"10.1177/23247096231224328","DOIUrl":"10.1177/23247096231224328","url":null,"abstract":"Trichuriasis is a neglected tropical disease caused by Trichuris trichiura that spreads through the ingestion of embryonated eggs in contaminated soil, water, or food. In nonendemic areas, T trichiura infestation is very rare and sporadic and is often diagnosed in immigrants from endemic countries such as the Philippines. Whipworms feed on human blood and also erode the colonic mucosa, thereby evoking an inflammatory response. In milder forms, trichuriasis can be asymptomatic and often an incidental diagnosis on screening colonoscopy. Heavily infested patients usually present with abdominal pain, nausea, vomiting, tenesmus, chronic diarrhea, iron deficiency anemia, or stunted growth. T trichiura worms can be removed with biopsy forceps during a colonoscopy; however, most patients require a course of albendazole, mebendazole, or ivermectin. We describe a unique case of T trichiura as an incidental finding during a screening colonoscopy. The whipworms were retrieved using biopsy forceps and the patient was treated with albendazole. At the time of the colonoscopy, the patient did not exhibit any specific symptoms related to the worm infestation.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096231224328"},"PeriodicalIF":1.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10777755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139403211","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

Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers. 线粒体 HMG-CoA 合成酶缺乏症：一种无可靠生化标记物的周期性呕吐模拟物

IF 0.9

Journal of investigative medicine high impact case reports Pub Date : 2024-01-01 DOI: 10.1177/23247096241267154

Annie D Niehaus, Holly Cooper, Chung U Lee

{"title":"Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers.","authors":"Annie D Niehaus, Holly Cooper, Chung U Lee","doi":"10.1177/23247096241267154","DOIUrl":"10.1177/23247096241267154","url":null,"abstract":"Here, we report an individual, eventually diagnosed with HMG-CoA synthase deficiency, who presented with a cyclic vomiting phenotype. HMG-CoA synthase deficiency is a rare disorder affecting ketone body synthesis in which affected individuals typically present at a young age with hypoketotic hypoglycemia, lethargy, encephalopathy, and hepatomegaly, usually triggered by catabolism (e.g., infection or prolonged fasting). This individual presented with recurrent episodes of vomiting and lethargy, often associated with hypoglycemia or hyperglycemia, at 3 years of age. Metabolic labs revealed nonspecific abnormalities in her urine organic acids (showing mild elevation of dicarboxylic acids with relatively low excretion of ketones) and a normal acylcarnitine profile. Given her clinical presentation, as well as a normal upper gastrointestinal series, esophagogastroduodenoscopy with biopsies, and abdominal ultrasound, she was diagnosed with cyclic vomiting syndrome at 3 years of age. Molecular testing completed at 7 years of age revealed a previously reported pathogenic sequence variant (c.1016+1G>A) and a novel likely pathogenic deletion (1.57 kB deletion, including exon 1) within HMGCS2 consistent with HMG-CoA synthase deficiency. This individual's presentation, mimicking cyclic vomiting syndrome, widens the clinical spectrum of HMG-CoA synthase deficiency. In addition, this case highlights the importance of molecular genetic testing in such presentations, as this rare disorder lacks specific metabolic markers.","PeriodicalId":16198,"journal":{"name":"Journal of investigative medicine high impact case reports","volume":"12 ","pages":"23247096241267154"},"PeriodicalIF":0.9,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11325301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141982476","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