Journal of Medical Case Reports最新文献

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Human herpesvirus-6B infection leading to hemophagocytic lymphohistiocytosis in an adult: a case report. 人疱疹病毒6b感染导致成人嗜血球性淋巴组织细胞增多症1例报告
IF 0.8
Journal of Medical Case Reports Pub Date : 2026-05-06 DOI: 10.1186/s13256-026-06071-2
Ji Yuan, Jinjin Li, Lei Jin, Jun Ye, Zhenhua Zhang
{"title":"Human herpesvirus-6B infection leading to hemophagocytic lymphohistiocytosis in an adult: a case report.","authors":"Ji Yuan, Jinjin Li, Lei Jin, Jun Ye, Zhenhua Zhang","doi":"10.1186/s13256-026-06071-2","DOIUrl":"https://doi.org/10.1186/s13256-026-06071-2","url":null,"abstract":"<p><strong>Background: </strong>Hemophagocytic lymphohistiocytosis (HLH) secondary to human herpesvirus-6B (HHV-6B) infection is rare in immunocompetent adults.</p><p><strong>Case presentation: </strong>We report the case of a 43-year-old East Asian (Chinese) woman who developed HLH, presenting with persistent fever, jaundice, and cytopenias. Metagenomic next-generation sequencing (mNGS) identified HHV-6B in both peripheral blood and liver tissue, thereby establishing the etiologic diagnosis. Prompt initiation of antiviral therapy with ganciclovir, combined with corticosteroids and intravenous immunoglobulin, resulted in rapid clinical remission.</p><p><strong>Conclusions: </strong>This case highlights the critical importance of early pathogen identification using mNGS and timely immunomodulatory treatment for improving outcomes in adult patients with virus-associated HLH.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Premature ovarian insufficiency complicated by metabolic dysfunction, including insulin resistance and dyslipidemia in a 14-year-old girl: a case report. 卵巢功能不全合并代谢功能障碍,包括胰岛素抵抗和血脂异常1例。
IF 0.8
Journal of Medical Case Reports Pub Date : 2026-05-06 DOI: 10.1186/s13256-026-06086-9
Shouyue Chen, Minghui Huang, Yangyang Lin, Mei Wang, Zongjing Zhang, Min Xin
{"title":"Premature ovarian insufficiency complicated by metabolic dysfunction, including insulin resistance and dyslipidemia in a 14-year-old girl: a case report.","authors":"Shouyue Chen, Minghui Huang, Yangyang Lin, Mei Wang, Zongjing Zhang, Min Xin","doi":"10.1186/s13256-026-06086-9","DOIUrl":"https://doi.org/10.1186/s13256-026-06086-9","url":null,"abstract":"<p><strong>Background: </strong>Premature ovarian insufficiency (POI) is a rare hypergonadotropic disorder in adolescents, with an incidence under 0.01% before age 20.</p><p><strong>Case presentation: </strong>A 14-year-old Han Chinese girl presented with secondary amenorrhea within 1 year of menarche. After comprehensive examination, she was diagnosed with idiopathic POI, complicating by metabolic dysfunction of insulin resistance (elevated fasting insulin) and dyslipidemia. Treated with cyclic hormone therapy, calcium, and vitamin D<sub>3</sub>, she achieved regular withdrawal bleeding and metabolic improvement.</p><p><strong>Conclusion: </strong>Although the occurrence of POI shortly after menarche was extremely rare, POI should be considered in adolescents with secondary amenorrhea, even shortly post-menarche. Multidisciplinary management of reproductive and metabolic health for patients with POI was vital importance.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839069","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Angina bullosa hemorrhagica: a case report. 大疱性出血性心绞痛1例。
IF 0.8
Journal of Medical Case Reports Pub Date : 2026-05-06 DOI: 10.1186/s13256-026-06067-y
Sally El-Haddad, Fatema Akhter, Dina H Younes
{"title":"Angina bullosa hemorrhagica: a case report.","authors":"Sally El-Haddad, Fatema Akhter, Dina H Younes","doi":"10.1186/s13256-026-06067-y","DOIUrl":"https://doi.org/10.1186/s13256-026-06067-y","url":null,"abstract":"<p><strong>Background: </strong>Angina bullosa hemorrhagica (ABH) is a rare, benign, and underdiagnosed oral mucosal condition characterized by the sudden appearance of blood-filled blisters. It is often misdiagnosed or underreported due to its self-limiting nature and lack of specific markers. This case contributes to the growing recognition of ABH by documenting its recurrent manifestation at an unusual site (tongue). It is reported to highlight the importance of avoiding misdiagnosis and unnecessary investigations. Additionally, it contributes to the limited literature on ABH in Egypt and supports established clinical diagnosis criteria.</p><p><strong>Case presentation: </strong>A 56-year-old Egyptian male with no significant medical history presented with a painless, dark-purple blood-filled blister on the right side of tongue. He had experienced similar episodes over the past 2 years. Examination showed a soft, non-blanching bulla that spontaneously ruptured, leading to mild erosion that healed within 10 days. Normal blood and coagulation tests led to a diagnosis of ABH. The patient was reassured and prescribed chlorhexidine 0.12% mouthwash, and educated about the benign nature and recurrence potential of the condition.</p><p><strong>Conclusion: </strong>This case underscores the importance of raising awareness about ABH to prevent misdiagnosis and unnecessary procedures. ABH is a self-limiting, recurrent oral lesion that can occur in atypical sites like the tongue, even without systemic risk factors. Diagnosis is primarily clinical, and recognizing its self-limiting nature is key for effective patient management.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Excellent response to benzocaine spray in an 8-year-old African female with idiopathic palato-pharyngo-laryngeal myoclonus: a case report. 苯佐卡因喷雾剂对8岁非洲女性特发性腭咽喉肌阵挛疗效显著。
IF 0.8
Journal of Medical Case Reports Pub Date : 2026-05-06 DOI: 10.1186/s13256-026-06090-z
Suleiman Khaddour, Ahed Assaf, William Borghol, Saja Karaja, Mousa Barboura, Mohammed Othman, Rain Alkhalil, Amer Khalaf Alali, Ahmad Zahi AlChawwaf
{"title":"Excellent response to benzocaine spray in an 8-year-old African female with idiopathic palato-pharyngo-laryngeal myoclonus: a case report.","authors":"Suleiman Khaddour, Ahed Assaf, William Borghol, Saja Karaja, Mousa Barboura, Mohammed Othman, Rain Alkhalil, Amer Khalaf Alali, Ahmad Zahi AlChawwaf","doi":"10.1186/s13256-026-06090-z","DOIUrl":"https://doi.org/10.1186/s13256-026-06090-z","url":null,"abstract":"<p><strong>Background: </strong>Palato-pharyngo-laryngeal myoclonus (PPLM) is a rare condition characterized by involuntary rhythmic movements of the muscles of the palate, larynx, and pharynx. It may be idiopathic or associated with other neurological deficits such as cerebrovascular accidents (CVA). In this article, we present a unique case of idiopathic PPLM which unexpectedly showed an excellent complete response to benzocaine, which is very exceptional.</p><p><strong>Case presentation: </strong>A clinical examination of an 8-year-old African (Somalian) female suggested the diagnosis of PPLM. An ultrasound imaging (US) as well as laryngoscopy with 15% benzocaine spray showed no associated abnormalities but demonstrated myoclonic spasms. The myoclonic spasms and symptoms unexpectedly subsided after the application of benzocaine. The myoclonus recurred after 5 hours and subsequently subsided following the administration of benzocaine. A further recurrence occurred after 13 hours; however, this latest episode demonstrated reduced frequency and severity after each application, ultimately resolving completely with no recurrence observed within 3 days of admission following each administration of benzocaine (Please refer to Graphical Abstract).</p><p><strong>Conclusion: </strong>All cases of palatal myoclonus (PM) or PPLM should be subjected to a thorough neurological evaluation to exclude any lesional etiologies associated with PPLM. While the prognosis for idiopathic PPLM is generally benign, the notable complete response of our patient to benzocaine spray merits further discussion. Additionally, further research is essential to elucidate the underlying mechanisms and to develop effective management strategies.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Small bowel obstruction induced by migrated sacropexy mesh: a case report. 骶骨固定术补片移位致小肠梗阻1例。
IF 0.8
Journal of Medical Case Reports Pub Date : 2026-05-05 DOI: 10.1186/s13256-026-06094-9
Ahmed Ben Mahmoud, Mahdi Hammami, Amine Sebai, Yosr Hassine, Youssef Chaker, Anis Haddad, Montassar Kacem
{"title":"Small bowel obstruction induced by migrated sacropexy mesh: a case report.","authors":"Ahmed Ben Mahmoud, Mahdi Hammami, Amine Sebai, Yosr Hassine, Youssef Chaker, Anis Haddad, Montassar Kacem","doi":"10.1186/s13256-026-06094-9","DOIUrl":"https://doi.org/10.1186/s13256-026-06094-9","url":null,"abstract":"<p><strong>Introduction: </strong>Small bowel obstruction (SBO) is a frequent cause of surgical emergency, most commonly due to adhesions, hernias, or tumors. Mesh-related SBO following laparoscopic sacropexy is an exceptionally rare complication, often presenting years after the initial procedure and difficult to diagnose preoperatively.</p><p><strong>Case presentation: </strong>We report a 69-year-old Caucasian woman with a history of laparoscopic sacropexy for cystocele repair using mesh eight years prior, presenting with abdominal pain, bilious vomiting, and distension. Laboratory tests revealed leukocytosis and elevated inflammatory markers. Abdominal radiography showed dilated small bowel loops, and computed tomography scan confirmed a mechanical SBO with a pelvic transition point, but the cause was unclear. Due to persistent symptoms despite medical management, laparoscopy was performed. Intraoperatively, a segment of small bowel mesentery was found incarcerated beneath a fibrous band, initially resembling an adhesion. Careful dissection revealed the band to be a migrated portion of the sacropexy mesh. The constricting segment was excised, the bowel released and inspected from the ligament of Treitz to the ileocecal valve, confirming viability and absence of additional lesions.</p><p><strong>Conclusion: </strong>Mesh-related SBO is extremely rare, with mechanisms including migration, erosion, and adhesion formation. Preoperative diagnosis is challenging since mesh is often poorly visualized on CT. Laparoscopy offers both diagnostic and therapeutic advantages, enabling targeted management with reduced morbidity compared to laparotomy, but requires advanced expertise to minimize the risk of enterotomy in distended bowel.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
When history can mislead a physician: a challenging case report of idiopathic pulmonary hemosiderosis-A case report and review of the literature. 当病史可能误导医生:一个具有挑战性的特发性肺含铁血黄素病病例报告和文献回顾。
IF 0.8
Journal of Medical Case Reports Pub Date : 2026-05-05 DOI: 10.1186/s13256-026-05878-3
Reem AlAgeel, Abdullah Aldraihem, Abdulmajeed Alfadhel, Khaled Aldraihem, Maha Sheikho, Anas Alturki, Tamer Abusido
{"title":"When history can mislead a physician: a challenging case report of idiopathic pulmonary hemosiderosis-A case report and review of the literature.","authors":"Reem AlAgeel, Abdullah Aldraihem, Abdulmajeed Alfadhel, Khaled Aldraihem, Maha Sheikho, Anas Alturki, Tamer Abusido","doi":"10.1186/s13256-026-05878-3","DOIUrl":"https://doi.org/10.1186/s13256-026-05878-3","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic pulmonary hemosiderosis is a rare condition characterized by non-immune-mediated alveolar hemorrhage. Its nonspecific clinical and radiological features make diagnosis particularly challenging. Idiopathic pulmonary hemosiderosis typically presents in older children with a classic triad of hemoptysis, chest X-ray abnormalities, and iron deficiency anemia. In contrast, preschool-aged children may show subtle signs such as respiratory distress, persistent cough, and pallor, which can mimic respiratory infections and lead to severe anemia. Prompt recognition is critical, as iron deposition in the alveoli adversely affects prognosis. Delayed diagnosis may result in pulmonary fibrosis, respiratory failure, or the need for lung transplantation.</p><p><strong>Case presentation: </strong>We report the case of a 3-year-old Asian girl with no significant medical history who presented with respiratory distress and severe anemia. She was initially treated as pneumonia with nutritional iron deficiency anemia, received a blood transfusion, and was discharged on iron and folic acid supplements; 2 weeks later, she returned with worsening respiratory distress, pallor, and hypoactivity. Workup revealed severe microcytic hypochromic anemia, elevated inflammatory markers, and bilateral heterogeneous opacities on chest X-ray. Diffuse alveolar hemorrhage was suspected and confirmed by bronchoscopy after exclusion of rheumatological diseases. Idiopathic pulmonary hemosiderosis was considered, and she was started on pulse methylprednisolone for 3 days, then weaned to maintenance prednisolone doses. Empirical antibiotics were discontinued after negative infectious studies. She showed significant clinical and radiological improvement within days, and at 2-month follow-up her hemoglobin was 11.2 g/dL.</p><p><strong>Conclusion: </strong>This case highlights the risk of misdiagnosing rare but serious conditions such as idiopathic pulmonary hemosiderosis. Early recognition and timely treatment are essential to improve outcomes and prevent long-term complications.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Aberrant left hepatic artery originating from the left gastric artery identified during gastrectomy: a case report. 胃切除术中发现起源于胃左动脉的左肝动脉异常1例。
IF 0.8
Journal of Medical Case Reports Pub Date : 2026-05-05 DOI: 10.1186/s13256-026-06088-7
Sevinj Salahova, Elchin Teymurov, Nuru Bayramov, Anar Namazov
{"title":"Aberrant left hepatic artery originating from the left gastric artery identified during gastrectomy: a case report.","authors":"Sevinj Salahova, Elchin Teymurov, Nuru Bayramov, Anar Namazov","doi":"10.1186/s13256-026-06088-7","DOIUrl":"https://doi.org/10.1186/s13256-026-06088-7","url":null,"abstract":"<p><strong>Background: </strong>Variations in hepatic arterial anatomy are clinically significant in upper abdominal surgery. A left hepatic artery (LHA) arising from the left gastric artery (LGA) is a recognized variant occurring in 6-21% of cases, but a large-caliber, dominant LHA is rare and has important implications during gastrectomy.</p><p><strong>Case presentation: </strong>A 58-year-old man of Azerbaijani ethnicity with gastric cancer, after four cycles of chemotherapy, underwent gastrectomy with D2 + lymph node dissection. During mobilization of the gastrohepatic ligament, a large aberrant LHA was discovered intraoperatively. The vessel originated from the LGA, coursed parallel to the superior margin of the left hepatic lobe and entered the hepatic hilum as an independent trunk. Preoperative contrast-enhanced computed tomography (CT) had demonstrated this anomalous artery. The vessel measured approximately 15 mm in diameter, indicating dominant arterial supply. The artery was preserved, and the procedure was completed uneventfully.</p><p><strong>Conclusion: </strong>A dominant aberrant LHA originating from the LGA is uncommon but clinically significant. Recognition of such variants-preferably through preoperative imaging-helps avoid inadvertent injury during gastrectomy.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Multipronged management of chronic non-healing venous leg ulcers using advanced wound dressings and patient-centered care: a case report. 采用先进的伤口敷料和以患者为中心的护理,多管齐下管理慢性不愈合静脉性腿部溃疡:一个病例报告。
IF 0.8
Journal of Medical Case Reports Pub Date : 2026-05-05 DOI: 10.1186/s13256-026-06059-y
Dilip Kumar Kandar, Keshavi Killi, Debasis Chakrabarti
{"title":"Multipronged management of chronic non-healing venous leg ulcers using advanced wound dressings and patient-centered care: a case report.","authors":"Dilip Kumar Kandar, Keshavi Killi, Debasis Chakrabarti","doi":"10.1186/s13256-026-06059-y","DOIUrl":"https://doi.org/10.1186/s13256-026-06059-y","url":null,"abstract":"<p><strong>Background: </strong>Venous leg ulcers are chronic wounds that can persist for years and severely affect quality of life, especially when complicated by infection and metabolic disturbances. This case is atypical, as it documents the complete healing of long-standing, bilateral venous leg ulcers that persisted for nearly a decade and became complicated by the onset of type 2 diabetes and Pseudomonas aeruginosa infection. The report highlights a hypothesis that prolonged inflammation in chronic wounds may contribute to metabolic dysregulation, while also demonstrating how an integrated outpatient multipronged management strategy can achieve complete healing without hospitalization.</p><p><strong>Case presentation: </strong>A 65-year-old South Asian man with a 10-year history of non-healing venous leg ulcers on both legs presented with foul-smelling discharge, thickened wound edges and social isolation due to odor. He had been diagnosed with type 2 diabetes 5 years ago and hypertension for 10 years. On examination, he had a large left-leg ulcer measuring 13 × 10 cm and two right-leg ulcers measuring 11 × 11 cm and 7 × 7 cm. Laboratory tests showed elevated inflammatory markers (C-reactive protein 248 mg/L, erythrocyte sedimentation rate 102 mm/h), mild anemia and wound swab culture/sensitivity positive for Pseudomonas aeruginosa, sensitive to meropenem and amikacin. Management included debridement, antibiotic therapy and application of a bioactive collagen-nanosilver gel dressing with a four-layer compression bandage. Nutritional counseling focused on high-protein meals, vitamin D and zinc supplementation, and adequate hydration. Regular family counseling sessions and follow-up visits were conducted to ensure adherence, leading to complete healing of all ulcers with restoration of mobility and self-care ability. No recurrence of ulcers was observed during follow-up.</p><p><strong>Conclusions: </strong>This case demonstrates that a multipronged outpatient approach combining targeted antimicrobial therapy, bioactive collagen-nanosilver wound dressings, nutritional optimization, and patient and caregiver education can result in full healing of chronic, infected venous ulcers while reducing the need for inpatient care. It also raises the hypothesis that chronic systemic inflammation from long-standing ulcers may predispose to metabolic dysfunction. Further prospective studies are needed to explore this potential link and to evaluate the reproducibility and cost-effectiveness of such multidisciplinary interventions in chronic wound management.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Compound heterozygous mutations in CC2D2A cause Meckel-Gruber syndrome: a case report and review of the literature. CC2D2A复合杂合突变引起Meckel-Gruber综合征1例报告及文献复习
IF 0.8
Journal of Medical Case Reports Pub Date : 2026-05-04 DOI: 10.1186/s13256-026-06070-3
Lixin Liu, Yan Lv, Xiya Zhou
{"title":"Compound heterozygous mutations in CC2D2A cause Meckel-Gruber syndrome: a case report and review of the literature.","authors":"Lixin Liu, Yan Lv, Xiya Zhou","doi":"10.1186/s13256-026-06070-3","DOIUrl":"https://doi.org/10.1186/s13256-026-06070-3","url":null,"abstract":"<p><strong>Background: </strong>Meckel-Gruber syndrome is a rare autosomal recessive ciliopathy characterized by the triad of occipital encephalocele, polycystic kidney dysplasia, and postaxial polydactyly, with an estimated incidence of 1:13,250 to 1:140,000 live births. Pathogenic variants in CC2D2A, encoding a ciliary transition zone protein, account for 5-15% of MGS cases. This report highlights the diagnostic utility of whole-exome sequencing (WES) in delineating molecular etiologies of MGS and reviews genotype-phenotype correlations associated with CC2D2A mutations.</p><p><strong>Case presentation: </strong>A 30-year-old Chinese primigravida (G1P0) from Shandong Province was referred at 23 week gestation following prenatal ultrasound detection of fetal anomalies. Key findings included bilateral enlarged hyperechoic kidneys (renal transverse diameter: 35 mm, > 95th percentile), occipital meningoencephalocele (29 × 25 × 12 mm) and bilateral postaxial hexadactyly. Prenatal counseling confirmed the fetal prognosis, and the parents chose to terminate the pregnancy. Postmortem WES revealed compound heterozygous CC2D2A variants.</p><p><strong>Conclusions: </strong>This case highlights that prenatal ultrasonography remains critical for early detection of MGS hallmarks, especially in resource-limited Settings. Second, WES-based molecular autopsy is crucial for definitive diagnosis and genetic counseling.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Coincident large left atrial myxoma and severe three-vessel coronary artery disease: single-stage resection with CABG: a case report. 大左心房黏液瘤合并严重三支冠状动脉病变:单期切除联合冠脉搭桥一例。
IF 0.8
Journal of Medical Case Reports Pub Date : 2026-05-04 DOI: 10.1186/s13256-026-06092-x
Angie Hawat, Ahmad Al-Bitar, Mohammad Alaa Aldakak, Ahmad Badran
{"title":"Coincident large left atrial myxoma and severe three-vessel coronary artery disease: single-stage resection with CABG: a case report.","authors":"Angie Hawat, Ahmad Al-Bitar, Mohammad Alaa Aldakak, Ahmad Badran","doi":"10.1186/s13256-026-06092-x","DOIUrl":"https://doi.org/10.1186/s13256-026-06092-x","url":null,"abstract":"<p><strong>Background: </strong>Cardiac myxoma, the most common primary cardiac tumor, can present with symptoms that overlap with coronary artery disease (CAD), creating a diagnostic challenge, particularly in older patients with cardiovascular risk factors.</p><p><strong>Case presentation: </strong>We report a case of a 67-year-old Arab woman with long-standing hypertension and type 2 diabetes mellitus, who presented with typical exertional angina. A transthoracic echocardiogram revealed a large left atrial mass consistent with a myxoma. Subsequent coronary angiography confirmed severe three-vessel CAD. Laboratory findings were notable for mild anemia and significantly elevated inflammatory markers, which had normalized by the time of surgery. The patient underwent a successful single-stage operation consisting of the complete surgical excision of the atrial myxoma and coronary artery bypass grafting. Histopathological analysis confirmed the diagnosis of a benign cardiac myxoma. Her postoperative recovery was uneventful, and she was discharged in good condition, with excellent clinical and echocardiographic results at follow-up.</p><p><strong>Conclusion: </strong>This case highlights the importance of maintaining a high index of suspicion for coexisting CAD in elderly patients diagnosed with cardiac myxoma. Preoperative coronary angiography is essential in this demographic to facilitate accurate diagnosis and guide the surgical strategy, for which a combined, single-stage operation is widely considered the most appropriate approach.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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