AACE Clinical Case Reports最新文献

{"title":"Uremic Leontiasis Ossea due to Resistant Secondary Hyperparathyroidism","authors":"Kubra Tuna MD ,&nbsp;Olesya Ilkun MD, PhD ,&nbsp;Peter T. Dziegielewski MD ,&nbsp;Anu Sharma MD","doi":"10.1016/j.aace.2024.09.001","DOIUrl":"10.1016/j.aace.2024.09.001","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Severe progressive overgrowth of the facial bones known as uremic leontiasis ossea (ULO) is a rare complication of resistant hyperparathyroidism in end-stage renal disease (ESRD). The objective of this report is to describe the presentation and treatment of ULO.</div></div><div><h3>Case Report</h3><div>A 48-year-old woman with a history of hypertension, coronary artery disease, and ESRD on hemodialysis presented with severe secondary hyperparathyroidism and calciphylaxis. She had significant changes to her face in the last 3 months leading to oropharyngeal dysphagia and difficulty articulating. Physical examination revealed bony overgrowth in her upper jaw and hard palate, widely spaced teeth, and calcinosis cutis. Her parathyroid hormone (PTH), calcium, and phosphorus levels were 5066 pg/mL (normal range, 12-88 pg/mL); 10.0 mg/dL (8.4-10.2 mg/dL); and 5.4 mg/dL (2.7-4.5 mg/dL); respectively. Using a multidisciplinary approach, she successfully underwent a 3.5-gland parathyroidectomy (immediate postoperative PTH level, 600 pg/mL). She was discharged without complication. Pathology showed hypercellular parathyroid glands with reactive changes.</div></div><div><h3>Discussion</h3><div>ULO, the most severe form of renal osteodystrophy, results in hypertrophy of the craniofacial skeleton. It carries the risk of significant comorbidities due to cranial nerve compression, respiratory compromise, dysarthria, and dysphagia.</div></div><div><h3>Conclusion</h3><div>With prolonged, uncontrolled PTH stimulation in ESRD, significant facial disfiguration with disabilities can occur. It is of utmost importance to adhere to guideline-specified PTH targets in persons with ESRD to prevent patient harm from permanent physical deformities.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 5-9"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784621/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078362","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":"Bilateral Adrenal Tumors: A Visual Case Series","authors":"Dipika R. Mohan MD, PhD ,&nbsp;Rutu Shah MD ,&nbsp;Malak Itani MD ,&nbsp;Mohamed Awali MD ,&nbsp;Sina Jasim MD, MPH","doi":"10.1016/j.aace.2024.11.006","DOIUrl":"10.1016/j.aace.2024.11.006","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 79-86"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784626/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078406","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":"Digital Twin Technology in Resolving Polycystic Ovary Syndrome and Improving Metabolic Health: A Comprehensive Case Study","authors":"Paramesh Shamanna MD ,&nbsp;Anuj Maheshwari MD ,&nbsp;Ashok Keshavamurthy MD ,&nbsp;Sanjay Bhat DM ,&nbsp;Abhijit Kulkarni DM ,&nbsp;Shivakumar R MD ,&nbsp;Kumar K MD ,&nbsp;Mukulesh Gupta MD ,&nbsp;Mohamed Thajudeen MD ,&nbsp;Ranjita Kulkarni MD ,&nbsp;Shashikiran Patil MD ,&nbsp;Shashank Joshi DM","doi":"10.1016/j.aace.2024.11.004","DOIUrl":"10.1016/j.aace.2024.11.004","url":null,"abstract":"<div><h3>Background</h3><div>Clinical manifestations of polycystic ovary syndrome (PCOS) are heterogeneous, with hallmarks including anovulation, androgen excess, and insulin resistance.</div></div><div><h3>Case Report</h3><div>A 38-year-old female with typical PCOS features presented with hypertension, obesity, and elevated fasting and postprandial insulin levels. She was enrolled in the Digital Twin (DT) platform, which uses artificial intelligence and Internet of Things to deliver personalized nutrition by predicting postprandial glucose responses and suggesting alternative foods with lower postprandial glucose response through a mobile app. After 360 days, significant improvements were observed. Weight decreased from 65.4 kg to 57.3 kg (−12.4%); body mass index lowered from 26.2 to 22.96 (−12.4%); Waist circumference reduced from 104 cm to 86.3 cm (−17.0%); clinic systolic blood pressure/diastolic blood pressure reduced from 144/93 to 102/80 mmHg (−29.17%/-13.98%); fasting insulin dropped from 27.6 to 15.5 μIU/mL (−43.8%); postprandial insulin decreased from 182.4 to 23.8 μIU/mL (−87.0%); Homeostatic Model Assessment of Insulin Resistance reduced from 6.47 to 3.48 (−46.2%); estimated glomerular filteration rate improved from 116 to 128 mL/min/1.73m2 (+10.3%); urine microalbumin creatinine ratio decreased from 596 to 73 mg/g (−87.8%). Ultrasound showed reduced ovarian volume and improved fatty liver infiltration, while computed tomography scan revealed significant reductions in epicardial (21.8%), pericardial (69.9%), and visceral fat (44.4%).</div></div><div><h3>Discussion</h3><div>This case shows the effective use of DT technology for managing PCOS, significantly improving weight, body mass index, insulin, blood pressure, and lipid profile. It supports the potential of artificial intelligence-driven, personalized interventions in chronic disease management.</div></div><div><h3>Conclusion</h3><div>This case highlights the potential of DT technology in managing PCOS, showing significant metabolic and reproductive improvements, suggesting promising future research directions.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 70-74"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784609/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078411","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":"A Case of Severe Cushing Syndrome due to Metastatic Adrenocortical Carcinoma Treated With Osilodrostat","authors":"Kathleen R. Ruddiman DO ,&nbsp;Catherine E. Price MD, ECNU, FACE ,&nbsp;Alexander K. Bonnecaze MD","doi":"10.1016/j.aace.2024.10.005","DOIUrl":"10.1016/j.aace.2024.10.005","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Osilodrostat used with block-and-replace dosing regimen is an off-label alternative to traditional management of Cushing syndrome due to adrenocortical carcinoma (ACC).</div></div><div><h3>Case Report</h3><div>A 70-year-old woman presented with abdominal pain and was found to have a large right adrenal mass and hypercortisolism. Right adrenalectomy was pursued with pathology consistent with diagnosis of ACC. Three months after surgery, hypercortisolemia recurred and bony metastatic disease was detected soon after. The patient received chemotherapy and mitotane; however, mitotane was stopped after development of hemolytic anemia. The patient’s urinary free cortisol became severely elevated, and osilodrostat was subsequently initiated for steroidogenesis inhibition. As dosage was increased, the patient presented with fatigue and hypotension and was diagnosed with adrenal insufficiency. This was managed with hydrocortisone in a block-and-replace dosing strategy.</div></div><div><h3>Discussion</h3><div>ACC can cause severe hypercortisolism, which is associated with significant morbidity and mortality. Osilodrostat was an effective off-label option for steroidogenesis inhibition in our patient who developed severe hypercortisolism and did not tolerate first-line therapy. Our patient also experienced iatrogenic adrenal insufficiency during treatment with osilodrostat, which was successfully managed using a block-and-replace strategy. There are limited cases currently available that document use of osilodrostat under the above circumstances.</div></div><div><h3>Conclusion</h3><div>Although osilodrostat is currently only approved for use in pituitary Cushing disease, we found it effective in off-label use to treat Cushing syndrome due to ACC. Using a block-and-replace treatment strategy was a practical intervention after development of adrenal insufficiency.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 53-57"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784602/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078392","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":"A Rare Case of Thyrotoxic Periodic Paralysis in a Patient With Concomitant Methimazole-Induced Agranulocytosis","authors":"Kevin S. Wei MD ,&nbsp;Alexandra N. Lim MD ,&nbsp;Sophie M. Cannon MD","doi":"10.1016/j.aace.2024.11.002","DOIUrl":"10.1016/j.aace.2024.11.002","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Thyrotoxic periodic paralysis (TPP) is a rare condition causing weakness of the lower extremities associated with significant hypokalemia. Likewise, agranulocytosis due to methimazole use is a rare occurrence. We present the first documented case of concomitant TPP and agranulocytosis from methimazole use.</div></div><div><h3>Case Report</h3><div>A 48-year-old woman presented with sore throat, fevers, odynophagia, and sudden-onset bilateral leg weakness. Methimazole had been started 10 weeks prior for a new diagnosis of Graves’ disease. On admission, the patient was febrile, tachycardic, thyrotoxic, and neutropenic. She also experienced near-paralysis of the lower extremities. She was diagnosed with TPP and treated with beta blockade. She was admitted to the intensive care unit and started on broad-spectrum antibiotics, lithium, and propranolol for treatment of septic shock and hyperthyroidism, respectively. Given persistent hypokalemia despite 2 days of therapy, she was also diagnosed with refeeding syndrome.</div></div><div><h3>Discussion</h3><div>TPP is a rare entity, though it should be considered on the differential for any thyrotoxic patient presenting with sudden weakness. If the associated hypokalemia does not begin to normalize within 48 h of beta blockade, other etiologies should be investigated. Lastly, alternative treatments such as lithium may be used to control hyperthyroidism in patients with methimazole-induced agranulocytosis.</div></div><div><h3>Conclusion</h3><div>While methimazole-induced agranulocytosis and thyrotoxic periodic paralysis are independently rare diagnoses, the combination of the 2 is exceedingly rare, and our case represents the first documented case in the literature reflecting a patient suffering from both syndromes.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 66-69"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078394","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":"Editorial for January/February Issue of AACE Clinical Case Reports","authors":"Sina Jasim MD, MPH (Editor-in-Chief)","doi":"10.1016/j.aace.2024.12.008","DOIUrl":"10.1016/j.aace.2024.12.008","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 1-2"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078412","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":"Hidden in Plain Sight: Incidental Diagnosis of Metastatic Papillary Thyroid Microcarcinoma Without Radiologically Apparent Thyroid Tumor","authors":"Natalie Rivera Vargas MD ,&nbsp;Moises Matos MD ,&nbsp;Mustafa Kinaan MD, FACE","doi":"10.1016/j.aace.2024.10.006","DOIUrl":"10.1016/j.aace.2024.10.006","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Papillary thyroid cancer (PTC) is considered the most common form of thyroid cancer. Papillary thyroid microcarcinomas (PTMCs) are defined as papillary carcinomas that are &lt;1 cm and are often identified on surgical pathology but may be missed by ultrasound imaging.</div></div><div><h3>Case Report</h3><div>Our case describes a 24-year-old woman who initially presented with a right lateral neck lump. This was thought to be a lipoma, and no workup was performed until it began to grow during pregnancy 3 to 4 years after initial presentation. The patient underwent excision with findings of a level 5B lymph node with pathology consistent with PTC, follicular variant. Neck ultrasound performed in an imaging center and in our clinic did not reveal thyroid nodules or abnormal appearing lymph nodes. Solid tumor profiling assay identified a neurotrophic tropomyosin receptor kinase (NTRK)-3 fusion: ETV6(4)-NTRK3(14) mutation.</div></div><div><h3>Discussion</h3><div>PTMCs are identified with increased frequency due to improved ultrasound imaging and fine needle aspiration techniques. PTMCs are often associated with a benign course and are rarely metastatic. There has been growing interest in NTRK fusion mutations in PTC that has been associated with an increased risk of metastasis.</div></div><div><h3>Conclusion</h3><div>This case is unusual in that multiple cervical nodal metastases were present even without a sizable primary thyroid tumor. Although more studies are needed to elucidate the clinical and prognostic significance of NTRK fusion mutations in PTMC, their response to tropomyosin receptor kinase inhibitors may represent a future pathway for treatment.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 58-61"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784603/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078419","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":"Reviewer Acknowledgment 2024","authors":"","doi":"10.1016/j.aace.2024.12.009","DOIUrl":"10.1016/j.aace.2024.12.009","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Page 87"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143176382","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":"Successful Treatment of Benign Insulinoma by Transcatheter Angioembolization","authors":"Maria Iriarte-Durán MD ,&nbsp;Jose Teleche-Loaiza MD ,&nbsp;Alberto Rosero-Guerrero MD ,&nbsp;Edgar Folleco-Pazmiño MD ,&nbsp;Andrés García-Trujillo MD ,&nbsp;Guillermo Guzmán-Gómez MD","doi":"10.1016/j.aace.2024.10.007","DOIUrl":"10.1016/j.aace.2024.10.007","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Evidence on the efficacy and safety of minimally invasive treatment for insulinoma has increased over the past decade to the point of becoming a recommendation in clinical practice guidelines for the management of this type of neuroendocrine tumor.</div></div><div><h3>Case Report</h3><div>We describe the case of an elderly male patient with multiple comorbidities and recurrent isolated insulinoma of 3.7 × 3.5 cm involving the uncinate process of the pancreas and contacting the splenomesenteric confluent many years after first resection, in whom, after refusing surgical management, was performed as successful arterial embolization of the pancreatic tumor.</div></div><div><h3>Discussion</h3><div>When addressing this pathology, it is common to encounter patients who are not candidates for surgical management, either due to the presence of comorbidities, the location of the tumor in relation to vascular structures, or refusal of the intervention. Therefore, it is important to be aware of the different therapeutic options in localized and metastatic disease.</div></div><div><h3>Conclusion</h3><div>Minimally invasive procedures are positioned as an effective alternative for the treatment of the hormonal overproduction in patients with insulinoma.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 62-65"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078436","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":"Malignant Paraganglioma With Calvarial Metastases Presenting With Recurrent Catecholamine-Induced Cardiomyopathy","authors":"Beatrice A. Brumley MD ,&nbsp;Run Yu MD, PhD ,&nbsp;Shadfar Bahri MD ,&nbsp;Jane Rhyu MD","doi":"10.1016/j.aace.2024.09.006","DOIUrl":"10.1016/j.aace.2024.09.006","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Cranial metastases rarely occur in malignant paragangliomas (PGLs) or pheochromocytomas, which usually metastasize to the liver, bone, lungs, and lymph nodes. Early detection and intervention with a multidisciplinary approach are crucial given the critical location.</div></div><div><h3>Case Report</h3><div>Our patient was a 31-year-old man diagnosed with periaortic PGL and succinate dehydrogenase subunit B pathogenic variant at the age of 9 years with cardiac arrest. He developed intra-abdominal and skeletal metastatic disease by the age of 14 years and treated with surgery, chemotherapy, and radiation. After being lost to follow-up, the patient presented emergently with headache, palpitations, hypertensive crisis, type 2 non-ST-elevation myocardial infarction, and catecholamine-induced cardiomyopathy, with plasma free metanephrine level of 61.0 pg/mL (0.0-88.0 pg/mL) and elevated serum free normetanephrine level of 662.9 pg/mL (0.0-210.1 pg/mL). Imaging showed a right frontal calvarial lesion, with 4.9-cm intracranial dural and 4.9-cm extracranial components, and a 1.5-cm occipital bone lesion. Following adrenergic blockade, the patient underwent resection of the frontal lesion with pathology showing metastatic PGL.</div></div><div><h3>Discussion</h3><div>A multidisciplinary team was consulted. Because of potential neurotoxicity, radiology advised against radiotherapy. Oncology advised monitoring. Seven months postoperatively, gallium-68 dodecane tetraacetic acid–octreotate positron emission tomography/computed tomography showed no recurrence at the surgical site, stable occipital lesion, and additional skeletal metastases. The patient is planned for peptide receptor radionuclide therapy.</div></div><div><h3>Conclusion</h3><div>Our case highlights the importance of active surveillance in PGL and pheochromocytoma to allow early intervention for metastatic disease and reviews the controversial management of rare calvarial or cerebral metastases, including peptide receptor radionuclide therapy.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"11 1","pages":"Pages 24-28"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11784624/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078424","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}