Journal of Medical Case Reports最新文献_第5页

A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report. 与Joubert综合征代谢功能障碍相关的CSPP1变异：1例报告

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Journal of Medical Case Reports Pub Date : 2025-09-02 DOI: 10.1186/s13256-025-05332-w

Liany F Acosta-Paguada, Milca S Velásquez-Hernandez, Paola Sophia Bonilla Medina, Eduardo Smelin Perdomo Domínguez

{"title":"A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report.","authors":"Liany F Acosta-Paguada, Milca S Velásquez-Hernandez, Paola Sophia Bonilla Medina, Eduardo Smelin Perdomo Domínguez","doi":"10.1186/s13256-025-05332-w","DOIUrl":"10.1186/s13256-025-05332-w","url":null,"abstract":"Background: Joubert syndrome is a genetically heterogeneous ciliopathy characterized by cerebellar vermis hypoplasia and the distinctive molar tooth sign on neuroimaging, often accompanied by neurological impairment. Pathogenic CSPP1 variants account for approximately 3% of Joubert syndrome cases. While certain ciliopathies have been associated with metabolic dysfunction, this has not been described in CSPP1-related Joubert syndrome.Case presentation: We report a 16-year-old Honduran mestiza female patient with CSPP1-related Joubert syndrome who presented with insulin resistance, early onset diabetes, dyslipidemia, and metabolic dysfunction-associated steatotic liver disease. Notably, she lacked the typical neurological symptoms of Joubert syndrome. Brain magnetic resonance imaging revealed cerebellar vermis hypoplasia, confirming the diagnosis. Genetic testing identified a pathogenic heterozygous CSPP1 variant (c.3052C > T, p.Gln1018), supporting the diagnosis of CSPP1-related Joubert syndrome.Conclusion: This case expands the phenotypic spectrum of CSPP1-related Joubert syndrome and raises the possibility of a role for CSPP1 in metabolic homeostasis. Further research is needed to determine whether CSPP1 mutations contribute to metabolic dysfunction via ciliary or centrosome-associated mechanisms.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"438"},"PeriodicalIF":0.8,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12406429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957375","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

Afebrile vancomycin-induced delayed hypersensitivity suggestive of incomplete drug rash with eosinophilia and systemic symptoms syndrome: a case report. 发热万古霉素诱导的迟发性超敏反应提示不完全药物皮疹伴嗜酸性粒细胞增多和全身症状综合征：1例报告。

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Journal of Medical Case Reports Pub Date : 2025-09-02 DOI: 10.1186/s13256-025-05517-3

Chien-Hung Chou, Kun-Chuan Chang, Chi-Lan Kao, Kun-Jing Hong

{"title":"Afebrile vancomycin-induced delayed hypersensitivity suggestive of incomplete drug rash with eosinophilia and systemic symptoms syndrome: a case report.","authors":"Chien-Hung Chou, Kun-Chuan Chang, Chi-Lan Kao, Kun-Jing Hong","doi":"10.1186/s13256-025-05517-3","DOIUrl":"10.1186/s13256-025-05517-3","url":null,"abstract":"Background: Vancomycin-induced delayed hypersensitivity reactions are rare and typically accompanied by systemic symptoms such as fever, eosinophilia, and organ dysfunction, known as drug reaction with eosinophilia and systemic symptoms syndrome. However, nonsteroidal anti-inflammatory drugs can mask typical systemic signs, complicating diagnosis.Case presentation: A 61-year-old Asian Taiwanese male patient developed widespread erythematous macules and papules, significant skin desquamation, pruritus, and eosinophilia after 25 days of vancomycin therapy initiated for suspected methicillin-resistant Staphylococcus aureus (MRSA)-related spondylodiscitis. Notably, the patient remained afebrile, likely owing to concurrent prolonged aceclofenac (nonsteroidal anti-inflammatory drug) usage, which masked the fever commonly associated with hypersensitivity reactions. Symptoms improved significantly after discontinuing vancomycin and initiating antihistamines and corticosteroid therapy.Conclusion: This case highlights an atypical presentation of vancomycin-induced delayed hypersensitivity with incomplete drug reaction with eosinophilia and systemic symptoms syndrome due to the absence of fever, potentially masked by nonsteroidal anti-inflammatory drug treatment. Clinicians should remain vigilant for atypical presentations of drug hypersensitivity reactions, especially in patients concurrently taking nonsteroidal anti-inflammatory drugs that can suppress fever.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"439"},"PeriodicalIF":0.8,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12406545/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957328","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

Could scoliosis at the age of 7 months be a manifestation of progressive pseudorheumatoid dysplasia? A case report. 7个月大的脊柱侧凸可能是进行性假性类风湿发育不良的表现吗？一份病例报告。

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Journal of Medical Case Reports Pub Date : 2025-09-02 DOI: 10.1186/s13256-025-05425-6

Omran Janoud, Shihab Chaer, Yaman Shikha, Basheer Khalil

{"title":"Could scoliosis at the age of 7 months be a manifestation of progressive pseudorheumatoid dysplasia? A case report.","authors":"Omran Janoud, Shihab Chaer, Yaman Shikha, Basheer Khalil","doi":"10.1186/s13256-025-05425-6","DOIUrl":"10.1186/s13256-025-05425-6","url":null,"abstract":"Background: Progressive pseudorheumatoid dysplasia is a rare genetic skeletal disease that usually affects children between the ages of 3 and 8 years. The pathological progression of progressive pseudorheumatoid dysplasia involves noninflammatory degeneration of the articular cartilage, resulting in progressive joint stiffness and enlargement. Previously published studies have not considered scoliosis as an early manifestation of progressive pseudorheumatoid dysplasia. However, this paper did, and showed why we should take progressive pseudorheumatoid dysplasia as a differential diagnosis if there is a scoliosis in early years of life.Case presentation: In this paper, we report on an 11-year-old Syrian Arab girl with progressive pseudorheumatoid dysplasia who presented with progressive limitations in passive and active movement of multiple joints. The patient reported experiencing early symptoms, including lumbar scoliosis observed at the age of 7 months. However, at that time, the doctors were unable to make a definitive diagnosis. After years of follow-up with various doctors, the patient sought treatment at the Children's Hospital in Damascus, where an accurate diagnosis was finally reached. New X-ray images were taken and compared with previous ones, and appropriate laboratory tests were also conducted. Based on all the available information, a diagnosis of progressive pseudorheumatoid dysplasia was made without performing genetic analysis owing to its unavailability in the country.Conclusion: We have written this case report to guide future studies in determining whether there is a possible link between scoliosis in the first years of life and progressive pseudorheumatoid dysplasia. Consequently, is it worth considering progressive pseudorheumatoid dysplasia as a differential diagnosis for scoliosis in the early years?","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"437"},"PeriodicalIF":0.8,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12403613/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957406","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

Near-fatal asthma in a 12-year-old girl leading to life-threatening tonsillar herniation: a case report. 近乎致命的哮喘在一个12岁的女孩导致危及生命的扁桃体突出：一个病例报告。

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Journal of Medical Case Reports Pub Date : 2025-09-01 DOI: 10.1186/s13256-025-05507-5

Abdullah Almutairi, Khalid Althobaiti, Mohannad Antar, Hala Al Alem, Amna Kashgari

{"title":"Near-fatal asthma in a 12-year-old girl leading to life-threatening tonsillar herniation: a case report.","authors":"Abdullah Almutairi, Khalid Althobaiti, Mohannad Antar, Hala Al Alem, Amna Kashgari","doi":"10.1186/s13256-025-05507-5","DOIUrl":"10.1186/s13256-025-05507-5","url":null,"abstract":"Background: Severe asthma exacerbations can lead to rare and life-threatening complications such as cerebral edema and tonsillar herniation. This case highlights the importance of early recognition, aggressive treatment, and the implementation of standardized pediatric intensive care unit protocols for managing critical asthma complications.Case presentation: We report the case of a 12-year-old girl of Middle Eastern descent from Saudi Arabia with a history of bronchial asthma and allergic rhinitis who developed cerebral edema and resultant tonsillar herniation following a severe asthma exacerbation. Her presentation was marked by respiratory distress unresponsive to initial therapy. Intensive management in the pediatric intensive care unit including mechanical ventilation and neuroprotective measures resulted in full neurological recovery prior to discharge.Conclusion: This case underscores the need for prompt identification and multidisciplinary management of severe asthma complications in pediatric patients to prevent irreversible outcomes.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"435"},"PeriodicalIF":0.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12400729/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957441","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

Overcoming mirror anatomy: surgical strategies for laparoscopic cholecystectomy in situs inversus totalis: a case report. 克服镜像解剖：全反位腹腔镜胆囊切除术的手术策略：1例报告。

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Journal of Medical Case Reports Pub Date : 2025-09-01 DOI: 10.1186/s13256-025-05207-0

Iqra Khanzada, Sheeren Taj, Ghafoor Dalwani, Syed Raheel, Altaf K Talpur, Jemal Girma Mohammad

{"title":"Overcoming mirror anatomy: surgical strategies for laparoscopic cholecystectomy in situs inversus totalis: a case report.","authors":"Iqra Khanzada, Sheeren Taj, Ghafoor Dalwani, Syed Raheel, Altaf K Talpur, Jemal Girma Mohammad","doi":"10.1186/s13256-025-05207-0","DOIUrl":"10.1186/s13256-025-05207-0","url":null,"abstract":"Background: Situs inversus totalis is an uncommon congenital condition characterized by the complete reversal of internal organ placements from their usual orientation. This syndrome presents challenges in both diagnostic and surgical care owing to the anatomical reversal, with an incidence rate of around 1 in 5000 to 20,000 infants.Case presentation: A 50-year-old Asian Sindhi Ayan female patient with well-managed hypertension presented with intermittent cramp-like discomfort in the upper left region of her abdomen, which exacerbated after consuming fatty foods, accompanied by feelings of nausea and vomiting. Diagnostic imaging verified the presence of gallstones as the cause of symptoms, as well as a condition called situs inversus totalis. The individual had a planned surgical procedure called laparoscopic cholecystectomy. The surgical arrangement was changed to accommodate the mirrored anatomy, which included using a four-port approach and adjusting the location of the surgical team. The gallbladder was effectively extracted, and a subhepatic drain was inserted. The procedure had a duration of 65 minutes, and there were no anatomical deviations seen in the bile duct system.Discussion: The presence of situs inversus totalis makes it more difficult to address abdominal disorders since the organs are not in their usual positions. This example highlights the need of using specialized surgical procedures and comprehensive preoperative preparation to accommodate the inverted anatomy.Conclusion: Achieving successful laparoscopic surgery in patients with situs inversus totalis requires meticulous preparation and flexible approaches to overcome the specific difficulties posed by the reversed arrangement of organs.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"436"},"PeriodicalIF":0.8,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12403510/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957452","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

Congenital malaria in a neonate born in a malaria-endemic area: a case report. 疟疾流行地区新生儿先天性疟疾1例报告。

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Journal of Medical Case Reports Pub Date : 2025-08-31 DOI: 10.1186/s13256-025-05525-3

Biniyam Demisse Andarge, Kebede Almaw

{"title":"Congenital malaria in a neonate born in a malaria-endemic area: a case report.","authors":"Biniyam Demisse Andarge, Kebede Almaw","doi":"10.1186/s13256-025-05525-3","DOIUrl":"10.1186/s13256-025-05525-3","url":null,"abstract":"Background: Malaria remains a significant public health concern, particularly in Africa, where children under 5 years of age are affected. While mosquito bites are the primary transmission route, congenital malaria caused by transplacental or perinatal transmission can also occur. This case report highlights the challenges in diagnosing congenital malaria and emphasizes the importance of considering it in neonates, especially those born in or with a travel history to endemic areas.Case presentation: We report a case of congenital malaria in a 48 h-old male neonate born to a 23 year-old Ethiopian primigravida. The mother, who had received antenatal care in a nonendemic area, was diagnosed and treated for uncomplicated Plasmodium falciparum malaria with artemether-lumefantrine (Coartem®) one week before delivery. The delivery occurred at a hospital in a malaria-endemic zone. The neonate presented with respiratory distress and persistent fever, initially managed as early-onset neonatal sepsis. However, blood film microscopy confirmed parasitemia with coinfection of P. falciparum and P. vivax, with a parasite density of 1120 parasites/μL. The mother was asymptomatic at the time of the neonate's diagnosis and tested negative for malaria by both Rapid Diagnostic Test (RDT) and microscopy. The neonate was successfully treated with intravenous artesunate followed by oral artemisinin-lumefantrine, with complete clinical recovery.Conclusion: Despite the nonspecific symptoms, this case emphasizes the importance of considering congenital malaria in neonates, particularly those with a history of travel to endemic areas. Blood film microscopy confirmed coinfection and guided effective antimalarial therapy. Strengthening antenatal care services, including intermittent preventive treatment during pregnancy, is recommended to reduce the burden of congenital malaria.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"434"},"PeriodicalIF":0.8,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399003/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957397","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 recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series. 巴基斯坦无血缘关系患者中引起GNE肌病的复发性GNE变异：一个病例系列。

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Journal of Medical Case Reports Pub Date : 2025-08-30 DOI: 10.1186/s13256-025-05524-4

Shafaq Saleem, Fizza Akbar, Salman Kirmani, Ehtesham Khalid, Sara Khan

{"title":"A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series.","authors":"Shafaq Saleem, Fizza Akbar, Salman Kirmani, Ehtesham Khalid, Sara Khan","doi":"10.1186/s13256-025-05524-4","DOIUrl":"https://doi.org/10.1186/s13256-025-05524-4","url":null,"abstract":"Background: GNE myopathy, also referred to as bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase myopathy, is a progressive distal myopathy marked by rimmed vacuoles and linked to a variety of disease-causing genetic variants. These variants display considerable ethnic diversity worldwide. However, no studies to date have explored GNE disease variants in the Pakistani population.Case presentation: We report four unrelated adolescent male patients, from Pakistan, diagnosed with GNE myopathy. All four patients shared variant, c.2179G > A (p. Val727Met), which has previously been observed in Indian populations. Among these patients, three exhibited the variant in a compound heterozygous state along with a second variant; three out of four patients were born to consanguineous parents with positive family history of similar weakness in all cases described. Symptoms in these patients began at an average age of 21.5 years; three of the four patients became wheelchair dependent within 10 years from symptoms onset.Conclusion: The GNE variant c.2179G > A (p. Val727Met) is not exclusive to the Indian Rajasthani population but could also be prevalent in Pakistan, likely owing to shared South Asian ancestry. This report represents the first case series from Pakistan focusing on a specific GNE variant, providing a valuable addition to the genetic understanding of GNE myopathy in this population. This finding underscores the need for further genetic studies to explore the presence and impact of GNE variants in Pakistan and neighboring South Asian regions.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"433"},"PeriodicalIF":0.8,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12398965/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957309","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

Intraventricular metastasis with malignant progression of an intraspinal solitary fibrous tumor: a case report and review of the literature. 脑室内转移伴椎管内孤立性纤维性肿瘤恶性进展：1例报告及文献复习。

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Journal of Medical Case Reports Pub Date : 2025-08-30 DOI: 10.1186/s13256-025-05518-2

Zhiwang Guo, Tao Wu, Xiaolei Chen, Huimin Chang, Bing Hou

{"title":"Intraventricular metastasis with malignant progression of an intraspinal solitary fibrous tumor: a case report and review of the literature.","authors":"Zhiwang Guo, Tao Wu, Xiaolei Chen, Huimin Chang, Bing Hou","doi":"10.1186/s13256-025-05518-2","DOIUrl":"https://doi.org/10.1186/s13256-025-05518-2","url":null,"abstract":"Background: Solitary fibrous tumors are rare central nervous system neoplasms with high rates of local recurrence and distant metastasis. To date, no instances of metastatic dissemination from the spine to the ventricle with malignant progression have been documented.Case presentation: A 32-year-old male patient of Chinese ethnicity was diagnosed with a grade 2 intraspinal solitary fibrous tumor, demonstrating metastatic spread to the trigone region of the lateral ventricle. Despite cystic degeneration, the solid component of the metastatic lesion exhibited signal intensity similar to that of the primary tumor on imaging. A piecemeal gross total resection was achieved, and postoperative immunohistochemical analysis confirmed that the metastatic lesion was categorized as grade 3, with an increase in the Ki-67 proliferation index from 20% to 30%. Both the primary and metastatic tumors exhibited negative expression of CD34. Although radiotherapy was considered, consensus on its use was not reached, and the patient succumbed to tumor progression 17 months later.Conclusion: This case underscores the importance of recognizing the potential for malignant transformation and intracranial metastasis in intraspinal solitary fibrous tumors, highlighting the need for vigilant monitoring and possible aggressive treatment strategies.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"432"},"PeriodicalIF":0.8,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12398998/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957479","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

Hypodontia in a child with keratitis-ichthyosis-deafness (KID) syndrome: a case report. 儿童角膜炎-鱼鳞病-耳聋（KID）综合征牙缺失1例。

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Journal of Medical Case Reports Pub Date : 2025-08-29 DOI: 10.1186/s13256-025-05504-8

Tariq Shikh Saleh, Theres Poulsen, John-Erik Nyman

{"title":"Hypodontia in a child with keratitis-ichthyosis-deafness (KID) syndrome: a case report.","authors":"Tariq Shikh Saleh, Theres Poulsen, John-Erik Nyman","doi":"10.1186/s13256-025-05504-8","DOIUrl":"https://doi.org/10.1186/s13256-025-05504-8","url":null,"abstract":"Background: Keratitis-ichthyosis-deafness syndrome is a rare congenital disorder resulting from mutations in the GJB2 gene located on chromosome 13. It is classified among the ectodermal dysplasias, a group of conditions that affect structures derived from the ectoderm. While oral and dental anomalies are frequently reported, hypodontia (congenitally missing teeth) has only been mentioned in two prior cases. The most recent classification of ectodermal dysplasias does not yet include hypodontia as a recognized feature of keratitis-ichthyosis-deafness syndrome.Case presentation: A 6-year-old girl of Swedish descent was referred for evaluation owing to bleeding gums and oral discomfort. Clinical examination revealed dry, cracked lips, inflamed oral mucosa and gingiva, carious primary teeth, and multiple missing permanent teeth. Treatment was performed under general anesthesia, and the patient was placed on a bi-monthly follow-up schedule. After 2 years, her oral health had significantly improved.Conclusion: Missing teeth are commonly observed in ectodermal dysplasias. This case adds to the growing evidence that hypodontia may be a feature of keratitis-ichthyosis-deafness syndrome and supports its inclusion in future classifications. It also highlights the importance of specialized dental care, ideally provided by pediatric dental professionals.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"431"},"PeriodicalIF":0.8,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12395682/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957422","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

Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature. 年轻汉族女性耳肾支综合征1例报告及文献复习。

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Journal of Medical Case Reports Pub Date : 2025-08-28 DOI: 10.1186/s13256-025-05515-5

Jianqi Yi, Yonghao Wei, Shucai Fu, Hongbing Yu, Xiaoxun Hu

{"title":"Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature.","authors":"Jianqi Yi, Yonghao Wei, Shucai Fu, Hongbing Yu, Xiaoxun Hu","doi":"10.1186/s13256-025-05515-5","DOIUrl":"10.1186/s13256-025-05515-5","url":null,"abstract":"Background: Branchio-oto-renal syndrome is a rare autosomal dominant disorder characterized by branchial arch anomalies, hearing loss, and renal dysplasia. Its diagnosis remains challenging due to clinical heterogeneity and overlapping features with other syndromes. This case report aims to enhance awareness of branchio-oto-renal syndrome and highlight multidisciplinary management strategies.Case presentation: A 20-year-old Han Chinese female presented with bilateral preauricular and lateral neck fistulas since birth, accompanied by intermittent discharge. Physical examination revealed cup-shaped right ear deformity, bilateral preauricular fistulas, and branchial fistulas. Audiometry showed bilateral sensorineural hearing loss. Imaging studies identified an enlarged vestibular aqueduct and a hypoplastic left kidney. The patient underwent bilateral preauricular fistulotomy and bilateral branchial fistulotomy. Half a year after surgery, the patient's incision healed well with no discharge or signs of recurrence. Unfortunately, the patient did not undergo genetic testing.Conclusion: The diagnosis of branchio-oto-renal syndrome requires a high degree of clinical suspicion. Multidisciplinary collaboration is crucial for comprehensive management, including surgical intervention, audiological support, and long-term kidney monitoring.","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"430"},"PeriodicalIF":0.8,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12395678/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144957298","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