Journal of Medical Case Reports最新文献

{"title":"A KDM6 A variant in a Chinese female patient with diabetes mellitus and oligomenorrhea: a case report.","authors":"Huihui Tian, Hefei Wang, Jidong Liu, Shanshan Zhang","doi":"10.1186/s13256-025-05250-x","DOIUrl":"https://doi.org/10.1186/s13256-025-05250-x","url":null,"abstract":"<p><strong>Background: </strong>Kabuki syndrome (KS) is a rare, multisystemic genetic disorder caused by mutations in either the KMT2D or KDM6A genes. It is characterized by distinctive dysmorphic facial features, intellectual disability, and a variety of congenital anomalies. Endocrine manifestations such as growth hormone deficiency, hypoglycemia, and less frequently, diabetes mellitus (DM) and menstrual irregularities, have been reported. The diagnosis of KS can be challenging due to its phenotypic variability.</p><p><strong>Case presentation: </strong>We report a case of a 18 year-old female Han Chinese patient with KS who presented with menstrual irregularities, specifically oligomenorrhea, and a newly diagnosed non-autoimmune DM. She exhibited typical KS-related facial dysmorphism, short stature, and intellectual disability. Genetic testing confirmed a de novo mutation in the KDM6A gene (NM_021140.4:c.2177del). This case highlights the importance of recognizing uncommon endocrine presentations of KS, such as DM and menstrual disturbances, which may emerge during adolescence.</p><p><strong>Conclusion: </strong>This case illustrates the necessity of monitoring for endocrine complications, including glycemic abnormalities and reproductive issues, in patients with KS. Early recognition and intervention in these patients may improve outcomes and quality of life. Further research is needed to elucidate the mechanisms linking KDM6A mutations to endocrine dysfunction in KS.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"198"},"PeriodicalIF":0.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12042588/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970050","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}

{"title":"Disseminated tuberculosis in an immunocompetent healthy young male with nonspecific symptoms: challenges toward diagnosis-a case report.","authors":"Md Abdullah Al Maruf, Sirajam Munira, Mirza Farzana Holy, Md Foyjul Islam","doi":"10.1186/s13256-025-05252-9","DOIUrl":"https://doi.org/10.1186/s13256-025-05252-9","url":null,"abstract":"<p><strong>Background: </strong>Disseminated tuberculosis, characterized by spread of Mycobacterium tuberculosis to multiple noncontiguous sites, is rare in immunocompetent individuals. Diagnosing disseminated tuberculosis is challenging due to its varied and often nonspecific symptoms.</p><p><strong>Case presentation: </strong>We report the case of a 29-year-old Bangladeshi male with no notable past medical history, who presented with prolonged fever, night sweats, cough, weight loss, and altered bowel habits over 6 months. Initial evaluations in Italy and France did not yield a definitive diagnosis. Further investigations in Bangladesh, including sputum smear, fine-needle aspiration cytology of a postauricular lymph node, abdominal ultrasonography, and magnetic resonance imaging of the brain confirmed disseminated tuberculosis. The patient responded excellently to a standard four-drug antitubercular therapy regimen.</p><p><strong>Conclusions: </strong>Disseminated tuberculosis should be considered in patients with systemic symptoms, particularly those from regions with a high tuberculosis burden. Early and accurate diagnosis, despite atypical presentations and initial negative findings, is crucial for effective treatment and improved outcomes.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"195"},"PeriodicalIF":0.9,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12039205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006097","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}

{"title":"Early experience with renal autotransplant for renal artery stenosis in a 6-year-old patient with neurofibromatosis type 1: a case report.","authors":"Samantha J Wala, Morgan Beebe, Patrick Warren, Mahmoud Kallash, Jaimie Nathan, Sara Rasmussen","doi":"10.1186/s13256-025-05208-z","DOIUrl":"https://doi.org/10.1186/s13256-025-05208-z","url":null,"abstract":"<p><strong>Background: </strong>Renal artery stenosis due to neurofibromatosis type 1 is a known important source of secondary renovascular hypertension in pediatric patients. There are no guidelines on the management of renal artery stenosis in children, and the utility of stents and bypass grafting is limited given small patient size. Renal autotransplant to treat renal artery stenosis in a small pediatric patient may be a viable alternative for treatment and spare the need for nephrectomy.</p><p><strong>Case presentation: </strong>In this article, we present a case of renal autotransplant in a 6-year-old, 15.8 kg Nepali patient with neurofibromatosis type 1 with refractory hypertension and high-grade stenosis of the proximal right main renal artery. The patient underwent balloon angioplasty, which failed to dilate the stenosis. He later developed hypertensive urgency and required admission to the pediatric intensive care unit. The patient was not a candidate for repeat angioplasty given the length of the stenotic segment and its tortuosity. Blood pressure was unable to be controlled on multiple antihypertensive agents and the patient eventually developed hypertensive urgency. Therefore, a renal autotransplant of the right kidney was performed after multidisciplinary evaluation. The right renal artery ostium had significant hypertrophied intima involving 50% of its circumference. The kidney was procured in the same fashion as a living kidney donor nephrectomy. The kidney was mobilized in situ, and heparin was administered. The renal artery and renal vein were divided with surgical staplers. The kidney was removed from the patient and moved to the back table. On the back table, the organ was flushed with cold organ preservation solution and vessels inspected. The diseased portion of the right renal artery was resected to the location of no gross intimal thickening. It was judged that there was adequate length of the healthy artery remaining to allow safe reimplantation. The renal artery and vein were reimplanted to the abdominal aorta and inferior vena cava, respectively. The patient tolerated the surgery well, and 2 years postoperatively, he only requires one antihypertensive medication.</p><p><strong>Conclusion: </strong>Nephrectomy may be favored over renal autotransplant in small pediatric patients due to technical difficulties associated with autotransplant. We demonstrate significant clinical improvement in blood pressure control in a 15.8 kg, 6-year-old pediatric patient after renal autotransplant.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"196"},"PeriodicalIF":0.9,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12039198/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028082","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}

{"title":"Juxtaglomerular cell tumor: a case report.","authors":"Kays Chaker, Syrine Tlili, Alia Zehani, Nader Gharbia, Mariem Snoussi, Wassim Frikha, Hiba Ghabi, Boutheina Mosbahi, Ikram Mami, Mohamed Karim Zouaghi, Yassine Nouira","doi":"10.1186/s13256-025-05247-6","DOIUrl":"https://doi.org/10.1186/s13256-025-05247-6","url":null,"abstract":"<p><strong>Introduction: </strong>The tumor produces an excessive amount of renin resulting in secondary hyperaldosteronism, thereby causing hypertension with hypokalemia. The authors describe a case of reninoma in a young man, who presented with malignant hypertension.</p><p><strong>Case presentation: </strong>A 35-year-old African male patient referred to our institution, presenting with severe hypertension for 4 years. Renal magnetic resonance imaging showed a solid 9-mm lesion in the right upper pole cortex with high signal intensity on diffusion-weighted imaging, isointense on T2, and enhanced after contrast injection. The patient underwent an open right partial nephrectomy. The diagnosis of reninomas was confirmed by histopathological examination.</p><p><strong>Conclusion: </strong>Nephron-sparing surgery should be considered in patients with juxtaglomerular tumors. This technique allows prompt recovery with the preservation of significant renal function.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"197"},"PeriodicalIF":0.9,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12042515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006842","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}

{"title":"Genetic analysis of a female patient with X-linked lymphoproliferative disease type 2: a case report.","authors":"Yalin Sun, Shu Teng, Wen Li, Huaping Wang, Zhenghong Qi","doi":"10.1186/s13256-025-05237-8","DOIUrl":"https://doi.org/10.1186/s13256-025-05237-8","url":null,"abstract":"<p><strong>Background: </strong>X-linked lymphoproliferative syndrome type 2 is a relatively rare primary immunodeficiency disease caused by mutations in XIAP. X-linked lymphoproliferative syndrome type 2 typically occurs in male individuals, while female individuals are carriers of the pathogenic gene mutations. Furthermore, X-linked lymphoproliferative syndrome type 2 has a complex clinical phenotype. We aimed to explore the pathogenesis of X-linked lymphoproliferative syndrome type 2 through genetic testing of a family to provide a basis for clinical diagnosis.</p><p><strong>Case presentation: </strong>The clinical data of a female patient with X-linked lymphoproliferative syndrome type 2 and her family were collected and analyzed. The patient was 2 years 1 months old and of Han Chinese descent. Methylation-sensitive restriction enzyme amplification and capillary electrophoresis were used to detect X chromosome inactivation in the family. A novel mutation, c.910G > T (guanine to thymine), was identified in XIAP in the patient and her brother, but was not detected in the patient's parents. The proportion of chromosomal inactivation in the female children was 86%, which indicates a moderate inactivation shift and paternal inactivation shift.</p><p><strong>Conclusion: </strong>Close attention should be paid to shifts in X-chromosome inactivation in female children. When a pathogenic gene variant is not detected in a mother with a normal phenotype, gonadal mosaicism cannot be ruled out, and prenatal genetic diagnosis should be performed in the next pregnancy.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"193"},"PeriodicalIF":0.9,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12036126/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988574","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}

{"title":"Combined deficiency of factor V and factor VIII in a pediatric patient: a case report.","authors":"Yasmine Bendarkawi, Hassane Mamad, Zakia Berchane, Souad Benkirane, Azlarab Masrar","doi":"10.1186/s13256-025-05251-w","DOIUrl":"https://doi.org/10.1186/s13256-025-05251-w","url":null,"abstract":"<p><strong>Background: </strong>Combined deficiency of factors V and VIII is a rare autosomal recessive disorder associated with an increased risk of bleeding. We present an unusual case of a 7-year-old Moroccan child with no history of consanguinity who was hospitalized owing to a hemorrhagic episode during circumcision.</p><p><strong>Case presentation: </strong>The 7-year-old patient, a Moroccan boy from North Africa, coming from a family of five siblings, was referred for an evaluation of prolonged activated partial thromboplastin time and prothrombin time. Coagulation factor assays revealed a combined deficiency of factors V and VIII, with normal levels of other coagulation factors. This anomaly was detected in the hematology laboratory, where hemostasis tests were performed via optical methods on the Acl Top 750 analyzer. A complete blood count was conducted on the Beckman Coulter DXH 900 analyzer. Hemostasis assessments revealed an elevated activated partial thromboplastin time at 73.2 s (normal range < 36), with a patient-to-control activated partial thromboplastin time ratio of 2.58 (normal ratio < 1.2), a low prothrombin time at 18.35 s (normal prothrombin time range: 11.4-13.5), and an international normalized ratio of 1.59 (normal range: 2-3.5). Specific coagulation factor assays demonstrated a combined deficiency of factors V and VIII at 12.4% (normal range: 55-150) and 9.1% (normal range: 50-145), respectively, whereas other coagulation factor levels remained within the normal range, including the antigenic activity of von Willebrand at 71.7% (normal range: 50-150). The complete blood count showed no abnormalities, except for a small thrombocytosis. The child was managed in the pediatric hematology department, and a family investigation among the remaining siblings was initiated to search for similar cases.</p><p><strong>Conclusion: </strong>Our study highlights a rare and often underdiagnosed genetic disorder that is often confused with a diagnosis of minor hemophilia A or congenital factor V deficiency. Differential diagnosis is crucial, particularly for von Willebrand disease. Combined deficiency of factors V and VIII should be suspected in patients with a suggestive clinical and laboratory profile, including prolonged prothrombin time and activated partial thromboplastin time along with a deficiency in coagulation factor V. Therefore, measuring factor VIII levels is highly recommended.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"194"},"PeriodicalIF":0.9,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12039066/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025202","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}

{"title":"Primary aldosteronism diagnosis in the intensive care unit: resistant alkalosis and hypokalemia during severe sepsis with hyperlactatemia: a case report.","authors":"Yug Garg, Madhumati S Vaishnav, Reshma Harsha, Nidhi Garg, Siddhartha Dinesha, Leena Lekkala, Thummala Kamala, Kavitha Muniraj, Sathyanarayana Srikanta","doi":"10.1186/s13256-025-05112-6","DOIUrl":"https://doi.org/10.1186/s13256-025-05112-6","url":null,"abstract":"<p><strong>Background: </strong>Primary aldosteronism screening indications include hypertension (resistant, severe, early onset, with stroke/other comorbidities/sleep apnea), hypokalemia, adrenal incidentaloma, and primary aldosteronism first-degree relatives. We report rare diagnosis of primary aldosteronism in intensive care unit setting, characterized by resistant alkalosis and hypokalemia during severe sepsis with hyperlactatemia.</p><p><strong>Case presentation: </strong>A 50-year-old Asian-Indian male patient with 18-year history of hypertension (blood pressure 166/104 mmHg) presented with acute septicemia and septic shock following an outpatient urethral dilatation. Despite aggressive management, including intravenous fluids, inotropes, antibiotics, and potassium supplementation, he exhibited severe alkalosis and resistant hypokalemia. Initial laboratory findings showed blood pressure 90/70 mmHg, heart rate 109 beats per minute, pH 7.49, serum lactate 123 mmol/L, sodium 141-144 mmol/L, potassium 2.7-2.9 mmol/L, and creatinine 1.2-1.54 mg/dL (106.1-136.1 µmol/L). Abdominal imaging revealed left adrenal adenoma (20 mm × 19 mm). Patient improved with supportive care and was discharged on day 10 with reinstituted antihypertensive medications. Post-hospitalization, endocrine evaluation confirmed primary aldosteronism with plasma renin activity 0.62 ng/mL/hour, serum aldosterone 43.2 ng/dL (1.20 nmol/L), and aldosterone-renin ratio 69.7. After initiation of spironolactone, blood pressure significantly improved (currently 122/76 mmHg).</p><p><strong>Conclusion: </strong>Severe sepsis and septic shock in the intensive care unit typically present with metabolic acidosis. This case highlights an atypical presentation of paradoxical, resistant hypokalemia and alkalosis during severe sepsis, leading to a diagnosis of primary aldosteronism. Does the \"inbuilt\" tendency to metabolic alkalosis in primary aldosteronism confer survival advantage during intercurrent episodes of sepsis and metabolic acidosis? Given the high prevalence of renin-independent aldosterone production and benefits of mineralocorticoid receptor antagonists, universal primary aldosteronism screening for newly diagnosed hypertension appears meritorious and cost-effective.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"192"},"PeriodicalIF":0.9,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12032634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144029851","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}

{"title":"Advance imaging with magnetic resonance neurography for the diagnosis of unusual extensive pelvic perineural spread in colorectal cancer: a case report.","authors":"Valeria Richart, Angel Castillo-Fortuño, Ana Isabel Garcia-Diez","doi":"10.1186/s13256-025-05223-0","DOIUrl":"https://doi.org/10.1186/s13256-025-05223-0","url":null,"abstract":"<p><strong>Background: </strong>Perineural spread in rectal cancer is a rare occurrence, particularly when it extensively disseminates along the lumbosacral plexus, as well as the sciatic and pudendal nerves. Its diagnosis is challenging and represents a critical prognostic factor owing to its association with higher recurrence and metastasis rates.</p><p><strong>Case presentation: </strong>A 55-year-old Spanish female with a history of rectal adenocarcinoma underwent standard treatment, including neoadjuvant chemoradiotherapy, ultra-low anterior resection, and adjuvant chemotherapy. Five years later, a fluorine-18 fluorodeoxyglucose positron emission tomography-computed tomography scan detected a hypermetabolic lesion near the right piriformis muscle and internal iliac vessels, leading to surgical excision and radiotherapy, which confirmed metastasis. Three years after that, the patient presented with right-sided sciatica. Magnetic resonance neurography revealed characteristic features of perineural spread, including thickening, hyperintensity, enhancement, and diffusion restriction of the right sciatic and pudendal nerves, as well as the sacral roots (S1-S4). These findings differed from other neuropathic conditions, such as tumoral compression, traumatic neuropathy, and post-radiotherapy changes. Positron emission tomography-computed tomography and biopsy confirmed adenocarcinoma. Despite additional chemotherapy, the disease progressed, resulting in cerebral, lung, and bone metastases. The patient passed away 1 year later.</p><p><strong>Conclusion: </strong>This case highlights the potential role of the magnetic resonance neurography in the accurate diagnosis of perineural spread in rectal cancer, emphasizing the value of functional magnetic resonance neurography sequences in differentiating it from other causes of neuropathic pain. This is essential for clinicians, as perineural spread is associated with a poor prognosis and necessitates appropriate management.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"191"},"PeriodicalIF":0.9,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12023425/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143996529","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}

{"title":"Exacerbated hypercalcemia, nephrolithiasis, and renal impairment after vitamin D supplementation in granulomatous disease: a case report.","authors":"S Theilade, S Kafai Yahyavi, M Blomberg Jensen, E Eldrup","doi":"10.1186/s13256-025-05078-5","DOIUrl":"https://doi.org/10.1186/s13256-025-05078-5","url":null,"abstract":"<p><strong>Background: </strong>The cosmetic industry is booming with unorthodox therapies aimed at improving the appearance of beauty and strength. One such therapy is self-administered, intramuscular injections of paraffin oil for the purpose of increasing presumed muscular size. Paraffin oil injections are becoming frequent among younger male individuals, who inject up to several liters in (primarily) the upper extremities. However, paraffin oil leads to the formation of granulomas, which are rich in macrophages with an upregulated extrarenal 1-hydroxylation. These macrophages will rapidly and unimpededly convert inactive vitamin D (25OHD₂) to active vitamin D (1,25OH₂D₃), thereby causing significant hypercalcemia and derivative disease.</p><p><strong>Case presentation: </strong>In 2007, a Scandinavian male individual in his 20s had self-injected 1200 ml of paraffin oil into both biceps. Within 5 years, the oil had migrated and was then widely dispersed in his biceps and surrounding tissues, causing swelling and pain. By 2015, granulomas had formed at injection sites, and he was admitted to a hospital with severe hypercalcemia, which was managed with fluid therapy and slowly resolved. From 2015 to 2020, his calcium levels were intermittently elevated, and he experienced two episodes of nephrolithiasis requiring surgical intervention. In 2020, he was prescribed one dose oral vitamin D (6000 µg cholecalciferol) for suspected vitamin D deficiency based on a low serum 25OHD₂. His episodic hypercalcemia increased, and he developed nephrolithiasis and exacerbated renal impairment.</p><p><strong>Conclusion: </strong>Unlike most other patients with low 25(OH)D₂, patients with granulomatous disease should not routinely receive vitamin D supplementation, as this may aggravate hypercalcemia and hypercalcuria, causing nephrolithiasis and renal impairment.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"187"},"PeriodicalIF":0.9,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020162/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025139","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}

{"title":"Anatomical and clinical significance of the Cyrano long-nosed patella in combination with patellofemoral instability: a case report and review of literature.","authors":"Kunpeng Yang, Andreas Prescher, Frank Hildebrand, Christian David Weber","doi":"10.1186/s13256-025-05235-w","DOIUrl":"https://doi.org/10.1186/s13256-025-05235-w","url":null,"abstract":"<p><strong>Background: </strong>The combination of a long-nosed patella and patella alta can lead to symptoms such as anterior knee pain and patellofemoral instability.</p><p><strong>Purpose: </strong>Our objective was to address this uncommon, multifactorial cause of patellar pain and instability by a single-stage combined surgical approach.</p><p><strong>Case presentation: </strong>A 14-year-old German female presented to our hospital for recurrent patellar dislocations and exacerbated infrapatellar pain during kneeling. Following physical examination and imaging, the patient was diagnosed with patellar instability combined with the rare \"Cyrano\"-type patella. The patient underwent a single-stage procedure that included knee arthroscopic exploration, inferior pole osteotomy of the patella, tibial tuberosity osteotomy, and dynamic medial patellofemoral ligament reconstruction. Following the surgical procedure, the symptoms of knee pain and instability were entirely alleviated, accompanied by notable enhancements in the Knee Injury and Osteoarthritis Outcome Score , Kujala Score, and Lysholm Score. Notably, no recurrence was observed throughout the 2-year follow-up period.</p><p><strong>Conclusion: </strong>The entity of a symptomatic Cyrano patella may be combined with patellofemoral instability. Osteotomy and surgical excision of the long-nosed aspect of the inferior pole, coupled with the realignment of the patellofemoral joint in both coronal and sagittal planes, alleviated pain and enhanced knee joint stability, ultimately contributing to the resolution of this uncommon condition. A sagittal plane deformity of the patellar shape may significantly affect the measurement of the patella height, as the Insall-Salvati index may not correctly determine the height of a patella owing to the elongated nose.</p><p><strong>Level of evidence iv: </strong></p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"186"},"PeriodicalIF":0.9,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020251/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143996285","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}